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6-pyruvoyltetrahydropterin synthase deficiency
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Acidosis
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Acidosis
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Acidosis
Holocarboxylase synthetase deficiency: report of one case.
Acidosis
In vitro metabolic and respiratory acidosis selectively inhibit osteoblastic matrix gene expression.
Acidosis
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Acidosis, Lactic
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.
Acidosis, Lactic
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Acidosis, Lactic
Magnetic resonance imaging in lactic acidosis.
Acidosis, Lactic
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Acidosis, Respiratory
In vitro metabolic and respiratory acidosis selectively inhibit osteoblastic matrix gene expression.
Acute Coronary Syndrome
Association of matrix Gla protein gene allelic polymorphisms (G(-7)?A, T(-138)?C and Thr(83)?Ala) with acute coronary syndrome in the Ukrainian population.
Acute Coronary Syndrome
Circulating Levels of Dephosphorylated-Uncarboxylated Matrix Gla Protein in Patients with Acute Coronary Syndrome.
Acute Coronary Syndrome
Enhanced serum levels of matrix Gla protein and bone morphogenetic protein in acute coronary syndrome patients.
Acute Coronary Syndrome
[The frequency of allelic polymorphism of matrix Gla-protein gene in acute coronary syndrome patients].
acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Adenocarcinoma
Down-regulation of matrix Gla protein messenger RNA in human colorectal adenocarcinomas.
Adrenoleukodystrophy
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Albinism
Correlations between photosynthetic enzymes, CO2-fixation and plastid structure in an albino mutant of Zea mays L.
Alkaptonuria
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Alkaptonuria
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Alopecia
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
Alopecia
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Alopecia
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
Alopecia
New insight into the causes of immunodeficiency disorders.
Alopecia
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Alzheimer Disease
Biotin rescues mitochondrial dysfunction and neurotoxicity in a tauopathy model.
Aneurysm
Proteomic analysis of calcified abdominal and thoracic aortic aneurysms.
Aortic Aneurysm, Abdominal
Vitamin K2 Dependent Matrix Gla Protein Relating to Abdominal Aortic Aneurysm and Overall Mortality: A Combined Case Control and Cohort Study.
Aortic Rupture
Cell differentiation in vascular calcification.
Aortic Valve Disease
Relation of oral anticoagulation to cardiac valvular and coronary calcium assessed by multislice spiral computed tomography.
Aortic Valve Stenosis
Circulating levels of matrix gla protein and progression of aortic stenosis: a substudy of the Aortic Stenosis Progression Observation: Measuring Effects of rosuvastatin (ASTRONOMER) trial.
Aortic Valve Stenosis
Undercarboxylated matrix Gla protein is associated with indices of heart failure and mortality in symptomatic aortic stenosis.
Arrhythmias, Cardiac
[EFFECT OF THE CARBOXYLASE COENZYME ON CARDIAC ARRHYTHMIA.]
Arteriosclerosis
Matrix Gla protein reinforces angiogenic resolution.
Arteriovenous Malformations
Matrix Gla protein deficiency causes arteriovenous malformations in mice.
Arteriovenous Malformations
Matrix Gla protein limits pulmonary arteriovenous malformations in ALK1 deficiency.
Ataxia
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Ataxia
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
Ataxia
New insight into the causes of immunodeficiency disorders.
Ataxia
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Atherosclerosis
Association of kidney function and uncarboxylated matrix Gla protein: Data from the Heart and Soul Study.
Atherosclerosis
Atherosclerosis and matrix dystrophy.
Atherosclerosis
Increased levels of the calcification marker matrix Gla Protein and the inflammatory markers YKL-40 and CRP in patients with type 2 diabetes and ischemic heart disease.
Atherosclerosis
Matrix Gla protein is associated with risk factors for atherosclerosis but not with coronary artery calcification.
Atherosclerosis
Matrix Gla protein reinforces angiogenic resolution.
Atherosclerosis
Mineral exploration: search for the mechanism of vascular calcification and beyond: the 2003 Jeffrey M. Hoeg Award lecture.
Atherosclerosis
No Association of Genetic Markers with Carotid Intimal Medial Thickness in ?-Thalassemia Major Patients.
Atherosclerosis
Systemic inflammatory response and calcification markers in patients with long lasting moderate-severe chronic spontaneous urticaria.
Atherosclerosis
The involvement of matrix glycoproteins in vascular calcification and fibrosis: an immunohistochemical study.
Atherosclerosis
Tryptanthrin Regulates Vascular Smooth Muscle Cell Phenotypic Switching in Atherosclerosis by AMP-Activated Protein Kinase/Acetyl-CoA Carboxylase Signaling Pathway.
Atherosclerosis
Vascular calcification: expression patterns of the osteoblast-specific gene core binding factor alpha-1 and the protective factor matrix gla protein in human atherogenesis.
Atherosclerosis
[Risk factors of atherosclerosis in end-stage renal disease patients]
Atrial Fibrillation
Association of GGCX gene polymorphism with warfarin dose in atrial fibrillation population in Xinjiang.
Atrial Fibrillation
Circulating uncarboxylated matrix Gla protein in patients with atrial fibrillation or heart failure with preserved ejection fraction.
Avitaminosis
[Biotin deficiency in the germ-free rat and propionic acidemia]
beta-Thalassemia
No Association of Genetic Markers with Carotid Intimal Medial Thickness in ?-Thalassemia Major Patients.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Late-onset holocarboxylase synthetase deficiency.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Purification and properties of bovine liver holocarboxylase synthetase.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]
Biotinidase Deficiency
A qualitative assessment of biotinidase deficiency.
Biotinidase Deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Biotinidase Deficiency
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Biotinidase Deficiency
Biotinidase activity in patients with liver disease.
Biotinidase Deficiency
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Biotinidase Deficiency
Biotinidase deficiency: a novel vitamin recycling defect.
Biotinidase Deficiency
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Biotinidase Deficiency
Biotinidase deficiency: initial clinical features and rapid diagnosis.
Biotinidase Deficiency
Biotinidase Deficiency: New Directions and Practical Concerns.
Biotinidase Deficiency
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Biotinidase Deficiency
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
Biotinidase Deficiency
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
Biotinidase Deficiency
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
Biotinidase Deficiency
Enzyme studies in biotin-responsive disorders.
Biotinidase Deficiency
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Biotinidase Deficiency
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Biotinidase Deficiency
Late-onset holocarboxylase synthetase deficiency.
Biotinidase Deficiency
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
Biotinidase Deficiency
Long-term auditory and visual complications of biotinidase deficiency.
Biotinidase Deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Biotinidase Deficiency
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
Biotinidase Deficiency
Neonatal screening for biotinidase deficiency in east-Hungary.
Biotinidase Deficiency
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Biotinidase Deficiency
Nutritional therapy for selected inborn errors of metabolism.
Biotinidase Deficiency
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
Biotinidase Deficiency
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Biotinidase Deficiency
Phenotypic variation in biotinidase deficiency.
Biotinidase Deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Biotinidase Deficiency
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Biotinidase Deficiency
[Biotinidase deficiency (late-onset multiple carboxylase deficiency)]
Biotinidase Deficiency
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Bone Resorption
Bone markers in the healthy Thai people.
Bone Resorption
Gene expression analyses in malformed skeletal structures of gilthead sea bream (Sparus aurata).
Bone Resorption
Unexpected Role of Matrix Gla Protein in Osteoclasts: Inhibiting Osteoclast Differentiation and Bone Resorption.
Brain Diseases
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
Breast Neoplasms
Differential regulation of matrix Gla protein (MGP) gene expression by retinoic acid and estrogen in human breast carcinoma cells.
Breast Neoplasms
Downregulation of matrix Gla protein is a biomarker for tamoxifen-resistant and radioresistant breast cancer.
Breast Neoplasms
Matrix Gla protein repression by miR-155 promotes oncogenic signals in breast cancer MCF-7 cells.
Breast Neoplasms
Overexpression of matrix Gla protein mRNA in malignant human breast cells: isolation by differential cDNA hybridization.
Breast Neoplasms
Prognostic value of matrix Gla protein in breast cancer.
Breast Neoplasms
Screening of core genes and pathways in breast cancer development via comprehensive analysis of multi gene expression datasets.
Calcinosis
Aortic microcalcification is associated with elastin fragmentation in Marfan syndrome.
Calcinosis
Calcinosis cutis associated with primary Sjogren's syndrome: strong expression of osteonectin and matrix Gla protein.
Calcinosis
Calcinosis in juvenile dermatomyositis: a possible role for the vitamin K-dependent protein matrix Gla protein.
Calcinosis
Expression of osteonectin and matrix Gla protein in scleroderma patients with and without calcinosis.
Calcinosis
The association of matrix Gla protein isomers with calcification in capsules surrounding silicone breast implants.
Calciphylaxis
Calciphylaxis in a dialysis patient successfully treated with high-dose vitamin K supplementation.
Calciphylaxis
Vitamin K-Dependent Carboxylation of Matrix Gla Protein Influences the Risk of Calciphylaxis.
Canavan Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Candidiasis
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Carcinoma
Evidence of a warfarin-sensitive cancer procoagulant in V2 carcinoma.
Carcinoma
gamma-Glutamyl carboxylase activity in experimental tumor tissues: a biochemical basis for vitamin K dependence of cancer procoagulant.
Carcinoma
Role of the AMPK/ACC Signaling Pathway in TRPP2-Mediated Head and Neck Cancer Cell Proliferation.
Carcinoma
Specific pattern of LKB1 and phospho-acetyl-CoA carboxylase protein immunostaining in human normal tissues and lung carcinomas.
Carcinoma
[Pyruvic acid metabolism. I. Effect of carboxylase on pyruvic acid metabolism in carcinoma and hepatitis epidemica.]
Carcinoma, Hepatocellular
An autocrine factor from Reuber hepatoma cells that stimulates DNA synthesis and acetyl-CoA carboxylase. Characterization of biologic activity and evidence for a glycan structure.
Carcinoma, Hepatocellular
Exon 2 deletion splice variant of gamma-glutamyl carboxylase causes des-gamma-carboxy prothrombin production in hepatocellular carcinoma cell lines.
Carcinoma, Hepatocellular
Identification of mRNA coding for factor VII protein in human alveolar macrophages--coagulant expression may be limited due to deficient postribosomal processing.
Carcinoma, Hepatocellular
Levels of vitamin K, immunoreactive prothrombin, des-gamma-carboxy prothrombin and gamma-glutamyl carboxylase activity in hepatocellular carcinoma tissue.
Carcinoma, Hepatocellular
Measurement of immunoreactive prothrombin precursor and vitamin-K-dependent gamma-carboxylation in human hepatocellular carcinoma tissues: decreased carboxylation of prothrombin precursor as a cause of des-gamma-carboxyprothrombin synthesis.
Carcinoma, Hepatocellular
Rev-erb? activation down-regulates hepatic Pck1 enzyme to lower plasma glucose in mice.
Carcinoma, Hepatocellular
The vitamin K-dependent gamma-glutamyl carboxylase gene contains a TATA-less promoter with a novel upstream regulatory element.
Carcinoma, Hepatocellular
Vitamin K-dependent carboxylase activity, prothrombin mRNA, and prothrombin production in two cultured rat hepatoma cell lines.
Cardiomegaly
Upregulation of cardiac matrix Gla protein expression in response to hypertrophic stimuli.
Cardiovascular Diseases
Arterial calcifications.
Cardiovascular Diseases
Association of the Inactive Circulating Matrix Gla Protein with Vitamin K Intake, Calcification, Mortality, and Cardiovascular Disease: A Review.
Cardiovascular Diseases
Cardiovascular disease genetics: a long and winding road.
Cardiovascular Diseases
Circulating uncarboxylated matrix Gla protein in patients with atrial fibrillation or heart failure with preserved ejection fraction.
Cardiovascular Diseases
Circulating uncarboxylated matrix Gla protein, a marker of vitamin K status, as a risk factor of cardiovascular disease.
Cardiovascular Diseases
Circulating Vitamin K Is Inversely Associated with Incident Cardiovascular Disease Risk among Those Treated for Hypertension in the Health, Aging, and Body Composition Study (Health ABC).
Cardiovascular Diseases
Matrix Gla Protein Species and Risk of Cardiovascular Events in Type 2 Diabetic Patients.
Cardiovascular Diseases
Matrix Gla Protein, Plaque Stability, and Cardiovascular Events in Patients with Severe Atherosclerotic Disease.
Cardiovascular Diseases
Relationship of matrix Gla protein and vitamin K with vascular calcification in hemodialysis patients.
Cardiovascular Diseases
The effect of vitamin K2 supplementation on vascular calcification in haemodialysis patients: a 1-year follow-up randomized trial.
Cardiovascular Diseases
The Role of Vitamin K Status in Cardiovascular Health: Evidence from Observational and Clinical Studies.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Carotid Stenosis
Circulating matrix Gla protein: a potential tool to identify minor carotid stenosis with calcification in a risk population.
Cerebral Hemorrhage
Serum Levels of Calcification Inhibitors in Patients With Intracerebral Hemorrhage.
Cerebrovascular Disorders
[ANALYSIS OF ?-GLUTAMYL CARBOXYLASE GENE rs2592551 POLYMORPHISM ASSOCIATION WITH ISCHEMIC ATHEROTHROMBOTIC STROKE].
Cholestasis, Intrahepatic
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Cholestasis, Intrahepatic
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Chorea
Adult-onset chorea and dementia with propionic acidemia.
Chronic Kidney Disease-Mineral and Bone Disorder
Renal osteodystrophy: alpha-Heremans Schmid glycoprotein/fetuin-A, matrix GLA protein serum levels, and bone histomorphometry.
Citrullinemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Coinfection
New insight into the causes of immunodeficiency disorders.
Colitis
Mesenchymal stromal cells-derived matrix Gla protein contribute to the alleviation of experimental colitis.
Colitis, Ulcerative
Association between matrix Gla protein and ulcerative colitis according to DNA microarray data.
Colitis, Ulcerative
Corrigendum to: Association between matrix Gla protein and ulcerative colitis according to DNA microarray data.
Communicable Diseases, Emerging
The vitamin K-dependent carboxylase has been acquired by Leptospira pathogens and shows altered activity that suggests a role other than protein carboxylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Corneal Dystrophies, Hereditary
High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health.
Coronary Artery Disease
Association of Genetic Polymorphisms in the Matrix Gla Protein (MGP) Gene with Coronary Artery Disease and Serum MGP Levels.
Coronary Artery Disease
Circulating Levels of Dephosphorylated-Uncarboxylated Matrix Gla Protein in Patients with Acute Coronary Syndrome.
Coronary Artery Disease
Role of Matrix Gla Protein in the Complex Network of Coronary Artery Disease: A Comprehensive Review.
Coronary Artery Disease
The associations of fibroblast growth factor 23 and uncarboxylated matrix Gla protein with mortality in coronary artery disease: the Heart and Soul Study.
Coronary Disease
Circulating phylloquinone, inactive Matrix Gla protein and coronary heart disease risk: A two-sample Mendelian Randomization study.
Coronary Disease
Matrix Gla Protein Species and Risk of Cardiovascular Events in Type 2 Diabetic Patients.
Coronary Disease
Polymorphisms of the human matrix gla protein (MGP) gene, vascular calcification, and myocardial infarction.
COVID-19
The Association of Low Vitamin K Status with Mortality in a Cohort of 138 Hospitalized Patients with COVID-19.
Craniofacial Abnormalities
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.
cystathionine beta-synthase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Cystinuria
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Dehydration
Dehydration of macromolecules. II. Protective effects of certain anions on ribulosediphosphate carboxylase subjected to low water potenials in vitro.
Dehydration
Effect of drought stress on growth and essential oil metabolism in lemongrasses.
Dehydration
Effects of partial defoliation, changes of irradiance during growth, short-term water stress and growth at enhanced p(CO2) on the photosynthetic capacity of leaves of Phaseolus vulgaris L.
Dehydration
Mesophyll Resistance and Carboxylase Activity: A Comparison under Water Stress Conditions.
Dehydration
Mild Water Stress Effects on Carbon-Reduction-Cycle Intermediates, Ribulose Bisphosphate Carboxylase Activity, and Spatial Homogeneity of Photosynthesis in Intact Leaves.
Dementia
Adult-onset chorea and dementia with propionic acidemia.
Dermatitis
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
Dermatitis
New insight into the causes of immunodeficiency disorders.
Dermatomyositis
Calcinosis in juvenile dermatomyositis: a possible role for the vitamin K-dependent protein matrix Gla protein.
Dermatomyositis
Vitamin K-dependent carboxylase in skin.
Diabetes Mellitus
Arterial calcifications.
Diabetes Mellitus
Atherosclerosis and matrix dystrophy.
Diabetes Mellitus, Type 2
Correction: Correction: Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Diabetes Mellitus, Type 2
Correction: Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Diabetes Mellitus, Type 2
Erratum: Vascular calcification in patients with type 2 diabetes: the involvement of matrix Gla protein.
Diabetes Mellitus, Type 2
Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Diabetes Mellitus, Type 2
Increased levels of the calcification marker matrix Gla Protein and the inflammatory markers YKL-40 and CRP in patients with type 2 diabetes and ischemic heart disease.
Diabetes Mellitus, Type 2
Vascular calcification in patients with type 2 diabetes: the involvement of matrix Gla protein.
Diabetic Cardiomyopathies
Effect of gamma-carboxylase inhibition on serum osteocalcin may be partially protective against developing diabetic cardiomyopathy in type 2 diabetic rats.
Diabetic Foot
[Efficacy of thiamine pyrophosphate or carboxylase in the salvage of diabetic foot].
Diabetic Ketoacidosis
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Diabetic Nephropathies
Matrix Gla protein T-138C polymorphism is associated with carotid intima media thickness and predicts mortality in patients with diabetic nephropathy.
DNA Repair-Deficiency Disorders
Nuclear matrix proteins and hereditary diseases.
Endometrial Hyperplasia
Autophagy in the physiological endometrium and cancer.
Endometrial Neoplasms
Autophagy in the physiological endometrium and cancer.
Epilepsy
The anticonvulsant actions of carisbamate associate with alterations in astrocyte glutamine metabolism in the lithium-pilocarpine epilepsy model.
Exanthema
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Exanthema
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Exanthema
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Exanthema
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Fanconi Anemia
Nuclear matrix proteins and hereditary diseases.
Fanconi Syndrome
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Fatty Liver
Berberine Ameliorates High-Fat Diet-Induced Non-Alcoholic Fatty Liver Disease in Rats via Activation of SIRT3/AMPK/ACC Pathway.
Fatty Liver
Comparison of Antiobesity Effects Between Gochujangs Produced Using Different Koji Products and Tabasco Hot Sauce in Rats Fed a High-Fat Diet.
Fatty Liver
Identification of novel molecular candidates for fatty liver in the hyperlipidemic mouse model, HcB19.
Fatty Liver
Molecular mechanisms related to the hepatoprotective effects of antioxidant-rich extra virgin olive oil supplementation in rats subjected to short-term iron administration.
Fatty Liver
The biochemistry of fatty liver and kidney syndrome. Biotin-mediated restoration of hepatic gluconeogenesis in vitro and its relationship to pyruvate carboxylase activity.
Fetal Diseases
The warfarin embryopathy: a rat model showing maxillonasal hypoplasia and other skeletal disturbances.
Fibrosarcoma
gamma-Glutamyl carboxylase activity in experimental tumor tissues: a biochemical basis for vitamin K dependence of cancer procoagulant.
fumarate hydratase deficiency
Defects of pyruvate metabolism and the Krebs cycle.
fumarate hydratase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Galactosemias
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Galactosemias
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Galactosemias
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Genetic Diseases, Inborn
Keutel Syndrome, a Review of 50 Years of Literature.
Genetic Diseases, Inborn
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.
Genetic Diseases, Inborn
Molecular genetics of biotin metabolism: old vitamin, new science.
Glioblastoma
Matrix gla protein (MGP): an overexpressed and migration-promoting mesenchymal component in glioblastoma.
Glioma
Functional Role of Matrix gla Protein in Glioma Cell Migration.
Glycogen Storage Disease
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Heart Diseases
[Fetuin A and matrix GLA protein in long standing type I diabetic patients without ischaemic heart disease]
Heart Failure
Cell differentiation in vascular calcification.
Heart Failure
Circulating levels of non-phosphorylated uncarboxylated matrix gla protein are associated with disease severity in patients with chronic heart failure.
Heart Failure
Circulating uncarboxylated matrix Gla protein in patients with atrial fibrillation or heart failure with preserved ejection fraction.
Heart Failure
No Association of Genetic Markers with Carotid Intimal Medial Thickness in ?-Thalassemia Major Patients.
Heart Failure
Protein Biomarkers of Cardiovascular Disease and Mortality in the Community.
Heart Failure
The abnormal status of uncarboxylated matrix Gla protein species represents an additional mortality risk in heart failure patients with vascular disease.
Heart Failure
Undercarboxylated matrix Gla protein is associated with indices of heart failure and mortality in symptomatic aortic stenosis.
Hepatitis
[Pyruvic acid metabolism. I. Effect of carboxylase on pyruvic acid metabolism in carcinoma and hepatitis epidemica.]
Hepatitis B
Expression of genes involved in lipogenesis is not increased in patients with HCV genotype 3 in human liver.
Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
Holocarboxylase Synthetase Deficiency
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.
Holocarboxylase Synthetase Deficiency
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Holocarboxylase Synthetase Deficiency
Late-onset holocarboxylase synthetase deficiency.
Holocarboxylase Synthetase Deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Holocarboxylase Synthetase Deficiency
Purification and properties of bovine liver holocarboxylase synthetase.
Holocarboxylase Synthetase Deficiency
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Holocarboxylase Synthetase Deficiency
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]
homocitrate synthase deficiency
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
Homocystinuria
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Homocystinuria
Cases of inborn errors of metabolism diagnosed in children with autism.
Homocystinuria
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Homocystinuria
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Homocystinuria
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Hydronephrosis
Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis.
hydroxymethylglutaryl-coa lyase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa lyase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Hypercalcemia
Mineral and bone disorder and vascular calcification in patients with chronic kidney disease.
Hypercalcemia
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications.
Hypercholesterolemia
Exploring genetic variations that may be associated with the direct effects of some antipsychotics on lipid levels.
Hyperglycemia
Phosphorylation state of acetyl-coenzyme A carboxylase. II. Variation with nutritional condition.
Hyperglycinemia, Nonketotic
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Hyperglycinemia, Nonketotic
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Hyperhomocysteinemia
[Lower extremity varicose veins in childhood and at a young age: Mechanism of development and specific features].
Hyperinsulinism
In vivo effects of hyperinsulinemia on lipogenic enzymes and glucose transporter expression in rat liver and adipose tissues.
Hyperlipidemias
Impact of Chicory?Supplemented Diet on HMG?CoA Reductase, Acetyl?CoA Carboxylase, Visfatin and Anti?Oxidant Status in Triton WR?1339?Induced Hyperlipidemia
Hyperostosis
Calcium deposition and associated chronic diseases (atherosclerosis, diffuse idiopathic skeletal hyperostosis, and others).
Hyperostosis
New developments in our understanding of DISH (diffuse idiopathic skeletal hyperostosis).
Hyperphosphatemia
Mineral and bone disorder and vascular calcification in patients with chronic kidney disease.
Hyperphosphatemia
The Multifactorial Pathogenesis of Calciphylaxis: A Case Report.
Hyperphosphatemia
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications.
Hypertension
OS 06-09 THE SYNERGISTIC ASSOCIATION BETWEEN VITAMIN D AND VITAMIN K WITH INCIDENT HYPERTENSION.
Hypertriglyceridemia
Exploring genetic variations that may be associated with the direct effects of some antipsychotics on lipid levels.
Hypoglycemia
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Hypoprothrombinemias
Effect of N-methyl-thiotetrazole on rat liver microsomal vitamin K-dependent carboxylation.
Hypoprothrombinemias
Vitamin K-dependent carboxylase: increased activity in a hypoprothrombinemia state.
Infections
3-methylcrotonyl Coenzyme A (CoA) carboxylase complex is involved in the Xanthomonas citri subsp. citri lifestyle during citrus infection.
Infections
Expression of bovine vitamin K-dependent carboxylase activity in baculovirus-infected insect cells.
Infections
Identification of macrophage induced genes of Corynebacterium pseudotuberculosis by differential fluorescence induction.
Inflammatory Bowel Diseases
Inactive matrix Gla protein is elevated in patients with inflammatory bowel disease.
Insulin Resistance
ACC2 Deletion Enhances IMCL Reduction Along With Acetyl-CoA Metabolism and Improves Insulin Sensitivity in Male Mice.
Insulin Resistance
beta-Cell adaptation to insulin resistance. Increased pyruvate carboxylase and malate-pyruvate shuttle activity in islets of nondiabetic Zucker fatty rats.
Insulin Resistance
Knockout of CNR1 prevents metabolic stress-induced cardiac injury through improving insulin resistance (IR) injury and endoplasmic reticulum (ER) stress by promoting AMPK-alpha activation.
Insulin Resistance
Reduced insulin clearance and lower insulin-degrading enzyme expression in the liver might contribute to the thrifty phenotype of protein-restricted mice.
Insulin Resistance
Sterol O-acyltransferase 1 deficiency improves defective insulin signaling in the brains of mice fed a high-fat diet.
Intervertebral Disc Degeneration
Evaluation of 12 Novel Molecular Markers for Degenerated Nucleus Pulposus in a Chinese Population.
Intracranial Arteriovenous Malformations
Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency.
Ischemic Stroke
ACC1 (Acetyl Coenzyme A Carboxylase 1) Is a Potential Immune Modulatory Target of Cerebral Ischemic Stroke.
Ischemic Stroke
Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients.
Ischemic Stroke
Matrix Gla protein polymorphism rs1800801 associates with recurrence of ischemic stroke.
Ketosis
Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency.
Ketosis
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
Kidney Calculi
A polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population.
Kidney Calculi
A polymorphism of matrix Gla protein gene is associated with kidney stones.
Kidney Calculi
Prevalence, pathophysiological mechanisms and factors affecting urolithiasis.
Kidney Calculi
[Expression of matrix Gla protein and bone morphogenetic protein 2 in renal papillary tissues in patients with calcium oxalate kidney stones].
Kidney Failure, Chronic
Calcification Biomarkers, Subclinical Vascular Disease, and Mortality Among Multiethnic Dialysis Patients.
Kidney Failure, Chronic
Circulating nonphosphorylated carboxylated matrix gla protein predicts survival in ESRD.
Kidney Failure, Chronic
Sequential Bone Scintigraphy and the Evolution of Warfarin-Mediated Calcific Uremic Arteriolopathy.
Kwashiorkor
Biotin supplementation affects lymphocyte carboxylases and plasma biotin in severe protein-energy malnutrition.
Leptospirosis
The vitamin K-dependent carboxylase has been acquired by Leptospira pathogens and shows altered activity that suggests a role other than protein carboxylation.
Leukemia
Identification of key pathways and genes in different types of chronic kidney disease based on WGCNA.
Leukemia
Induction of histidine decarboxylase of rat basophilic leukemia (2H3) cells stimulated by higher oligomeric IgE or phorbol myristate acetate.
Leukemia, Lymphocytic, Chronic, B-Cell
Alterations in ornithine decarboxylase and transglutaminase activities in lymphocytes from untreated patients with chronic lymphocytic leukemia.
Liver Diseases
Berberine Ameliorates High-Fat Diet-Induced Non-Alcoholic Fatty Liver Disease in Rats via Activation of SIRT3/AMPK/ACC Pathway.
Liver Diseases
Biotinidase activity in patients with liver disease.
Liver Diseases
Generation of isogenic Propionyl-CoA carboxylase beta subunit (PCCB) deficient induced pluripotent stem cell lines.
long-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
long-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Lymphatic Metastasis
Increased expression of phospho-acetyl-CoA carboxylase protein is an independent prognostic factor for human gastric cancer without lymph node metastasis.
Lymphoma, B-Cell
Apoptotic effect of lambertianic acid through AMPK/FOXM1 signaling in MDA-MB231 breast cancer cells.
Malaria
Apicoplast acetyl Co-A carboxylase of the human malaria parasite is not targeted by cyclohexanedione herbicides.
Malnutrition
Differential effect of total food withdrawal and dietary protein restriction on brain content of free histidine in the rat.
Maple Syrup Urine Disease
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Maple Syrup Urine Disease
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Maple Syrup Urine Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Maple Syrup Urine Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Maple Syrup Urine Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
medium-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
medium-chain acyl-coa dehydrogenase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
medium-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Melanoma
B16 tumor cells contain a warfarin sensitive vitamin K1 2,3 epoxide reductase.
Melanoma
Comprehensive genomic analysis contrasting primary colorectal cancer and matched liver metastases.
Metabolic Diseases
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Metabolic Diseases
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Metabolic Diseases
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Metabolic Diseases
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
Metabolic Diseases
Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.
Metabolic Diseases
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
Metabolism, Inborn Errors
Studies on inborn errors of metabolism in Norway.
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
methylcrotonoyl-coa carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Mevalonate Kinase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Mucopolysaccharidoses
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
Mucopolysaccharidoses
Cases of inborn errors of metabolism diagnosed in children with autism.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Multiple Carboxylase Deficiency
1H NMR spectra of methylcitric acid in urine.
Multiple Carboxylase Deficiency
A biotinidase Km variant causing late onset bilateral optic neuropathy.
Multiple Carboxylase Deficiency
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Multiple Carboxylase Deficiency
A qualitative assessment of biotinidase deficiency.
Multiple Carboxylase Deficiency
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
Multiple Carboxylase Deficiency
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.
Multiple Carboxylase Deficiency
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Multiple Carboxylase Deficiency
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy.
Multiple Carboxylase Deficiency
Analytical techniques for determining biotin.
Multiple Carboxylase Deficiency
Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.
Multiple Carboxylase Deficiency
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Multiple Carboxylase Deficiency
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
Multiple Carboxylase Deficiency
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Multiple Carboxylase Deficiency
Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium.
Multiple Carboxylase Deficiency
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.
Multiple Carboxylase Deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Multiple Carboxylase Deficiency
Biotin transport in the rat central nervous system.
Multiple Carboxylase Deficiency
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
Multiple Carboxylase Deficiency
Biotin-responsive multiple carboxylase deficiency and immunodeficiency.
Multiple Carboxylase Deficiency
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
Multiple Carboxylase Deficiency
Biotin-responsive multiple carboxylase deficiency of infantile onset.
Multiple Carboxylase Deficiency
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
Multiple Carboxylase Deficiency
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
Multiple Carboxylase Deficiency
Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.
Multiple Carboxylase Deficiency
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Multiple Carboxylase Deficiency
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
Multiple Carboxylase Deficiency
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Multiple Carboxylase Deficiency
Cutaneous findings of nutritional deficiencies in children.
Multiple Carboxylase Deficiency
Defective biotin absorption in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Deficient liver biotinidase activity in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Multiple Carboxylase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Multiple Carboxylase Deficiency
Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins.
Multiple Carboxylase Deficiency
Enzyme studies in biotin-responsive disorders.
Multiple Carboxylase Deficiency
Enzyme studies in combined carboxylase deficiency.
Multiple Carboxylase Deficiency
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Multiple Carboxylase Deficiency
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Multiple Carboxylase Deficiency
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
Multiple Carboxylase Deficiency
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Fetal drug therapy.
Multiple Carboxylase Deficiency
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
Multiple Carboxylase Deficiency
From an inborn error patient to a search for regulatory meaning: a biotin conducted voyage.
Multiple Carboxylase Deficiency
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase deficiency: report of one case.
Multiple Carboxylase Deficiency
Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells.
Multiple Carboxylase Deficiency
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Multiple Carboxylase Deficiency
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
Multiple Carboxylase Deficiency
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.
Multiple Carboxylase Deficiency
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
Multiple Carboxylase Deficiency
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Multiple Carboxylase Deficiency
Late-onset holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
Multiple Carboxylase Deficiency
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Multiple Carboxylase Deficiency
Lipid metabolism in biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Lymphoblasts and diagnosis of pyruvate carboxylase deficiency.
Multiple Carboxylase Deficiency
Magnetic resonance imaging in lactic acidosis.
Multiple Carboxylase Deficiency
Management of a patient with holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Mechanism of biotin-responsive combined carboxylase deficiency.
Multiple Carboxylase Deficiency
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Multiple Carboxylase Deficiency
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency due to deficiency of biotinidase.
Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Multiple Carboxylase Deficiency
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Multiple Carboxylase Deficiency
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Neonatal form of biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Neonatal screening for biotinidase deficiency in east-Hungary.
Multiple Carboxylase Deficiency
Neonatal screening for biotinidase deficiency.
Multiple Carboxylase Deficiency
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Multiple Carboxylase Deficiency
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
Multiple Carboxylase Deficiency
Nuclear matrix proteins and hereditary diseases.
Multiple Carboxylase Deficiency
Nutritional therapy for selected inborn errors of metabolism.
Multiple Carboxylase Deficiency
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Multiple Carboxylase Deficiency
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Multiple Carboxylase Deficiency
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Organic aciduria in neonatal multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Outcome of organic acidurias in china.
Multiple Carboxylase Deficiency
Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.
Multiple Carboxylase Deficiency
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Multiple Carboxylase Deficiency
Prenatal treatment of biotin responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Prenatal treatment of multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Protein-bound biotin: a consideration in multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.
Multiple Carboxylase Deficiency
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
Multiple Carboxylase Deficiency
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
Multiple Carboxylase Deficiency
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts.
Multiple Carboxylase Deficiency
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Multiple Carboxylase Deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Multiple Carboxylase Deficiency
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.
Multiple Carboxylase Deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Multiple Carboxylase Deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
Multiple Carboxylase Deficiency
Simplified method for the chemical diagnosis of organic aciduria using GC/MS.
Multiple Carboxylase Deficiency
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Multiple Carboxylase Deficiency
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.
Multiple Carboxylase Deficiency
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Multiple Carboxylase Deficiency
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
Multiple Carboxylase Deficiency
The neonatal form of biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Two forms of biotin-responsive multiple carboxylase deficiency.
Multiple Carboxylase Deficiency
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
Multiple Carboxylase Deficiency
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
Multiple Carboxylase Deficiency
[Applications of mass spectrometry for clinical laboratory test]
Multiple Carboxylase Deficiency
[Biotin-responsive multiple carboxylase deficiency]
Multiple Carboxylase Deficiency
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
Multiple Carboxylase Deficiency
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients]
Multiple Carboxylase Deficiency
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency.]
Multiple Carboxylase Deficiency
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
Multiple Carboxylase Deficiency
[Gene variant analysis of a patient with multiple carboxylase deficiency].
Multiple Carboxylase Deficiency
[Multiple carboxylase deficiency]
Multiple Carboxylase Deficiency
[Quantitative analysis of urinary organic acid]
Multiple Carboxylase Deficiency
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
Multiple Sclerosis
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Muscle Hypotonia
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Muscle Hypotonia
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
Myocardial Infarction
Association of Dephosphorylated-Uncarboxylated Matrix Gla Protein and Risk of Major Bleeding in Patients Presenting with Acute Myocardial Infarction.
Myocardial Infarction
Common genetic variants of MGP are associated with calcification on the arterial wall but not with calcification present in the atherosclerotic plaques.
Myocardial Infarction
Polymorphisms of the human matrix gla protein (MGP) gene, vascular calcification, and myocardial infarction.
Myocardial Ischemia
Increased levels of the calcification marker matrix Gla Protein and the inflammatory markers YKL-40 and CRP in patients with type 2 diabetes and ischemic heart disease.
Myoclonus
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
Neoplasm Metastasis
Increased expression of phospho-acetyl-CoA carboxylase protein is an independent prognostic factor for human gastric cancer without lymph node metastasis.
Neoplasms
A fluorescence-based thiol quantification assay for ultra-high-throughput screening for inhibitors of coenzyme A production.
Neoplasms
Abnormal prothrombin in the plasma of rats carrying hepatic tumors.
Neoplasms
Autophagy in the physiological endometrium and cancer.
Neoplasms
Direct measurement of vitamin K-dependent enzymes in various isolated and cultured tumor and non-tumor cells.
Neoplasms
Dissecting Molecular Mechanisms Underlying Pulmonary Vascular Smooth Muscle Cell Dedifferentiation in Pulmonary Hypertension: Role of Mutated Caveolin-1 (Cav1F92A)-Bone Marrow Mesenchymal Stem Cells.
Neoplasms
Downregulation of matrix Gla protein is a biomarker for tamoxifen-resistant and radioresistant breast cancer.
Neoplasms
Effects of diverse intracellular thiol delivery agents on glutathione peroxidase activity, the ratio of reduced/oxidized glutathione, and ornithine decarboxylase induction in isolated mouse epidermal cells treated with 12-O-tetradecanoylphorbol-13-acetate.
Neoplasms
Evidence of a warfarin-sensitive cancer procoagulant in V2 carcinoma.
Neoplasms
Expression of bone matrix protein messenger ribonucleic acids in human breast cancers. Possible involvement of osteopontin in development of calcifying foci.
Neoplasms
Expression of the matrix Gla protein in urogenital malignancies.
Neoplasms
gamma-Glutamyl carboxylase activity in experimental tumor tissues: a biochemical basis for vitamin K dependence of cancer procoagulant.
Neoplasms
Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis.
Neoplasms
Histological evaluation of AMPK signalling in primary breast cancer.
Neoplasms
Inhibitor of DNA binding-4 promotes angiogenesis and growth of glioblastoma multiforme by elevating matrix GLA levels.
Neoplasms
Interactions of protein kinase CK2beta subunit within the holoenzyme and with other proteins.
Neoplasms
Intracellular matrix Gla protein promotes tumor progression by activating JAK2/STAT5 signaling in gastric cancer.
Neoplasms
Liver kinase B1 (LKB1) in the pathogenesis of UVB-induced murine basal cell carcinoma.
Neoplasms
Matrix Gla protein in tumoral pathology.
Neoplasms
Mechanical microenvironment regulation of age-related diseases involving degeneration of human skeletal and cardiovascular systems.
Neoplasms
Mechanism of the abnormal vitamin K-dependent gamma-carboxylation process in human hepatocellular carcinomas.
Neoplasms
Methylcrotonoyl-CoA carboxylase 2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer.
Neoplasms
MGP Promotes Colon Cancer Proliferation by Activating the NF-?B Pathway through Upregulation of the Calcium Signaling Pathway.
Neoplasms
Microdermabrasion: a molecular analysis following a single treatment.
Neoplasms
Modulators of Networks: Molecular Targets of Arterial Calcification Identified in Man and Mice.
Neoplasms
Predictors of coronary artery calcification and its association with cardiovascular events in patients with chronic kidney disease.
Neoplasms
Short communication: Effect of heat stress during the dry period on gene expression in mammary tissue and peripheral blood mononuclear cells.
Neoplasms
Suppression MGP inhibits tumor proliferation and reverses oxaliplatin resistance in colorectal cancer.
Neoplasms
Synergistic effect of mammary tumors on hexachlorobenzene-induced porphyria in rats.
Neoplasms
Vitamin-K-dependent proteins in microsomes of primary Lewis lung tumors.
Nephrolithiasis
Calcium oxalate nephrolithiasis and expression of matrix GLA protein in the kidneys.
Nephrolithiasis
Status of Single Nucleotide Polymorphism of Matrix Gla Protein Gene (rs4236) in Nephrolithiasis: A Preliminary Study in Indian Population.
Nephrolithiasis
The risk of nephrolithiasis is causally related to inactive matrix Gla protein, a marker of vitamin K status: a Mendelian randomization study in a Flemish population.
Nervous System Diseases
Cardiovascular disease genetics: a long and winding road.
Neuroblastoma
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Neuroblastoma
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Neuroblastoma
Mechanism of regulation of ornithine decarboxylase gene expression by asparagine in a variant mouse neuroblastoma cell line.
Neurodegenerative Diseases
The Role of Vitamin K in Humans: Implication in Aging and Age-Associated Diseases.
Neurologic Manifestations
Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins.
Non-alcoholic Fatty Liver Disease
Berberine Ameliorates High-Fat Diet-Induced Non-Alcoholic Fatty Liver Disease in Rats via Activation of SIRT3/AMPK/ACC Pathway.
Obesity
A fluorescence-based thiol quantification assay for ultra-high-throughput screening for inhibitors of coenzyme A production.
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
ornithine carbamoyltransferase deficiency
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
ornithine carbamoyltransferase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
ornithine carbamoyltransferase deficiency
[Quantitative analysis of urinary organic acid]
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Ornithine Carbamoyltransferase Deficiency Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Ornithine Carbamoyltransferase Deficiency Disease
[Quantitative analysis of urinary organic acid]
Osteoarthritis
Characterization of dynamic changes in Matrix Gla Protein (MGP) gene expression as function of genetic risk alleles, osteoarthritis relevant stimuli, and the vitamin K inhibitor warfarin.
Osteoarthritis
Effect of GGCX on the differentiation function of osteoporosis bone marrow mesenchymal stem cells through regulating TGF?/smad signaling pathway.
Osteoarthritis
Effects of GGCX overexpression on anterior cruciate ligament transection-induced osteoarthritis in rabbits.
Osteoarthritis
Expression analysis of the osteoarthritis genetic susceptibility mapping to the matrix Gla protein gene MGP.
Osteoarthritis
Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand.
Osteoarthritis
Matrix Gla Protein Polymorphism, But Not Concentrations, Is Associated with Radiographic Hand Osteoarthritis.
Osteoarthritis
Multiple Modes of Vitamin K Actions in Aging-Related Musculoskeletal Disorders.
Osteoarthritis
Vitamin K-Dependent Proteins in Skeletal Development and Disease.
Osteoarthritis, Knee
Application of 3D-FS-SPGR imaging combined synovial fluid GGCX detection in the evaluation of knee osteoarthritis.
Osteoarthritis, Knee
Association of matrix Gla protein polymorphism and knee osteoarthritis in a chinese population.
Osteoarthritis, Knee
Genetic association analysis of Osteopontin and Matrix Gla Protein genes polymorphisms with primary knee osteoarthritis in Mexican population.
Osteoarthritis, Knee
[Effects of Short Thrust Needing plus Electroacupuncture Intervention on Cartilage Tissue in Rabbits with Knee Osteoarthritis].
Osteochondrosis
Molecular characterization and methylation study of matrix gla protein in articular cartilage from pig with osteochondrosis.
Osteoporosis
Cardiovascular disease genetics: a long and winding road.
Osteoporosis
Effect of GGCX on the differentiation function of osteoporosis bone marrow mesenchymal stem cells through regulating TGF?/smad signaling pathway.
Osteoporosis
Effect of serum fibroblast growth factor-23, matrix Gla protein and Fetuin-A in predicting osteoporosis in maintenance hemodialysis patients.
Osteoporosis
Genetic aspects of osteoporosis.
Osteoporosis
Long-term warfarin therapy and biomarkers for osteoporosis and atherosclerosis.
Osteoporosis
Matrix Gla Protein Promotes the Bone Formation by Up-Regulating Wnt/?-Catenin Signaling Pathway.
Osteoporosis
Mechanical microenvironment regulation of age-related diseases involving degeneration of human skeletal and cardiovascular systems.
Osteoporosis
[Effect of parathyroid hormone (1-34) on expression of matrix Gla protein and Wnt/? catenin signaling pathways in MG63 cell lines].
Osteoporosis, Postmenopausal
[Effect of estrogen on the expression of matrix GLA protein in ovariectomized SD rats].
Osteosarcoma
1,25-Dihydroxyvitamin D3 stimulates the synthesis of matrix gamma-carboxyglutamic acid protein by osteosarcoma cells. Mutually exclusive expression of vitamin K-dependent bone proteins by clonal osteoblastic cell lines.
Osteosarcoma
Induction of matrix Gla protein synthesis during prolonged 1,25-dihydroxyvitamin D3 treatment of osteosarcoma cells.
Osteosarcoma
Vitamin K2 regulation of bone homeostasis is mediated by the steroid and xenobiotic receptor SXR.
Ovarian Neoplasms
The Role of Matrix Gla Protein (MGP) Expression in Paclitaxel and Topotecan Resistant Ovarian Cancer Cell Lines.
Pancreatitis
Serum matrix Gla protein concentrations in patients with mild and severe acute pancreatitis.
pantoate-beta-alanine ligase (amp-forming) deficiency
Nutritional therapy for selected inborn errors of metabolism.
Paratuberculosis
Identification of Mycobacterium avium genes that affect invasion of the intestinal epithelium.
Paresis
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Parkinsonian Disorders
Improved control of brittle Parkinsonism by separate administration of levodopa and benserazide.
Parkinsonian Disorders
Treating parkinsonism with L-dopa and carboxylase inhibitor.
peptidyl-glutamate 4-carboxylase deficiency
1H NMR spectra of methylcitric acid in urine.
peptidyl-glutamate 4-carboxylase deficiency
A biotinidase Km variant causing late onset bilateral optic neuropathy.
peptidyl-glutamate 4-carboxylase deficiency
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
peptidyl-glutamate 4-carboxylase deficiency
A qualitative assessment of biotinidase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
A simple method for the preparation of antibodies to the mitochondrial biotin-dependent carboxylases.
peptidyl-glutamate 4-carboxylase deficiency
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts.
peptidyl-glutamate 4-carboxylase deficiency
Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.
peptidyl-glutamate 4-carboxylase deficiency
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.
peptidyl-glutamate 4-carboxylase deficiency
Adult-onset chorea and dementia with propionic acidemia.
peptidyl-glutamate 4-carboxylase deficiency
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
peptidyl-glutamate 4-carboxylase deficiency
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy.
peptidyl-glutamate 4-carboxylase deficiency
Analytical techniques for determining biotin.
peptidyl-glutamate 4-carboxylase deficiency
Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl.
peptidyl-glutamate 4-carboxylase deficiency
Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.
peptidyl-glutamate 4-carboxylase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
peptidyl-glutamate 4-carboxylase deficiency
Bioavailability of biotin given orally to humans in pharmacologic doses.
peptidyl-glutamate 4-carboxylase deficiency
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
peptidyl-glutamate 4-carboxylase deficiency
Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group.
peptidyl-glutamate 4-carboxylase deficiency
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
peptidyl-glutamate 4-carboxylase deficiency
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
peptidyl-glutamate 4-carboxylase deficiency
Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium.
peptidyl-glutamate 4-carboxylase deficiency
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.
peptidyl-glutamate 4-carboxylase deficiency
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
peptidyl-glutamate 4-carboxylase deficiency
Biotin transport in the rat central nervous system.
peptidyl-glutamate 4-carboxylase deficiency
Biotin uptake, utilization, and efflux in normal and biotin-deficient rat hepatocytes.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases).
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive in vivo carboxylase deficiency in two siblings with secretory diarrhea receiving total parenteral nutrition.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive multiple carboxylase deficiency and immunodeficiency.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
peptidyl-glutamate 4-carboxylase deficiency
Biotin-responsive multiple carboxylase deficiency of infantile onset.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase activity in patients with liver disease.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency: a novel vitamin recycling defect.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency: initial clinical features and rapid diagnosis.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase Deficiency: New Directions and Practical Concerns.
peptidyl-glutamate 4-carboxylase deficiency
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
peptidyl-glutamate 4-carboxylase deficiency
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
peptidyl-glutamate 4-carboxylase deficiency
Cases of inborn errors of metabolism diagnosed in children with autism.
peptidyl-glutamate 4-carboxylase deficiency
Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies.
peptidyl-glutamate 4-carboxylase deficiency
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
peptidyl-glutamate 4-carboxylase deficiency
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
peptidyl-glutamate 4-carboxylase deficiency
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
peptidyl-glutamate 4-carboxylase deficiency
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
peptidyl-glutamate 4-carboxylase deficiency
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
peptidyl-glutamate 4-carboxylase deficiency
Cutaneous findings of nutritional deficiencies in children.
peptidyl-glutamate 4-carboxylase deficiency
Defective biotin absorption in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Defects of pyruvate metabolism and the Krebs cycle.
peptidyl-glutamate 4-carboxylase deficiency
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Deficient liver biotinidase activity in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
peptidyl-glutamate 4-carboxylase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
peptidyl-glutamate 4-carboxylase deficiency
Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
peptidyl-glutamate 4-carboxylase deficiency
Effect of biotin deficiency and supplementation on lipid metabolism in rats: cholesterol and lipoproteins.
peptidyl-glutamate 4-carboxylase deficiency
Enzyme studies in biotin-responsive disorders.
peptidyl-glutamate 4-carboxylase deficiency
Enzyme studies in combined carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
peptidyl-glutamate 4-carboxylase deficiency
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
peptidyl-glutamate 4-carboxylase deficiency
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats.
peptidyl-glutamate 4-carboxylase deficiency
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
peptidyl-glutamate 4-carboxylase deficiency
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Fetal drug therapy.
peptidyl-glutamate 4-carboxylase deficiency
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
peptidyl-glutamate 4-carboxylase deficiency
From an inborn error patient to a search for regulatory meaning: a biotin conducted voyage.
peptidyl-glutamate 4-carboxylase deficiency
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency pre and post newborn screening.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase deficiency: report of one case.
peptidyl-glutamate 4-carboxylase deficiency
Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells.
peptidyl-glutamate 4-carboxylase deficiency
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
peptidyl-glutamate 4-carboxylase deficiency
Identification of 3-hydroxy-3-ethylglutaric acid in urine of patients with propionic acidaemia.
peptidyl-glutamate 4-carboxylase deficiency
Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
peptidyl-glutamate 4-carboxylase deficiency
Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
peptidyl-glutamate 4-carboxylase deficiency
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.
peptidyl-glutamate 4-carboxylase deficiency
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
peptidyl-glutamate 4-carboxylase deficiency
Inhibition of bone morphogenetic protein signal transduction prevents the medial vascular calcification associated with matrix Gla protein deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
peptidyl-glutamate 4-carboxylase deficiency
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.
peptidyl-glutamate 4-carboxylase deficiency
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
peptidyl-glutamate 4-carboxylase deficiency
Late-onset holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
peptidyl-glutamate 4-carboxylase deficiency
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
peptidyl-glutamate 4-carboxylase deficiency
Lipid metabolism in biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
peptidyl-glutamate 4-carboxylase deficiency
Liver transplantation in propionic acidaemia.
peptidyl-glutamate 4-carboxylase deficiency
Lymphoblasts and diagnosis of pyruvate carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Magnetic resonance imaging in lactic acidosis.
peptidyl-glutamate 4-carboxylase deficiency
Management of a patient with holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Matrix Gla protein deficiency causes arteriovenous malformations in mice.
peptidyl-glutamate 4-carboxylase deficiency
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.
peptidyl-glutamate 4-carboxylase deficiency
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Mechanism of biotin-responsive combined carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Metabolic annotation of 2-ethylhydracrylic acid.
peptidyl-glutamate 4-carboxylase deficiency
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
peptidyl-glutamate 4-carboxylase deficiency
Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Molecular basis for genetic complementation in propionyl CoA carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Multiple biotin-dependent carboxylase deficiencies associated with defects in immunity.
peptidyl-glutamate 4-carboxylase deficiency
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency due to deficiency of biotinidase.
peptidyl-glutamate 4-carboxylase deficiency
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
peptidyl-glutamate 4-carboxylase deficiency
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
peptidyl-glutamate 4-carboxylase deficiency
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
peptidyl-glutamate 4-carboxylase deficiency
Neonatal form of biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Neonatal screening for biotinidase deficiency in east-Hungary.
peptidyl-glutamate 4-carboxylase deficiency
Neonatal screening for biotinidase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
peptidyl-glutamate 4-carboxylase deficiency
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
peptidyl-glutamate 4-carboxylase deficiency
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.
peptidyl-glutamate 4-carboxylase deficiency
Nuclear matrix proteins and hereditary diseases.
peptidyl-glutamate 4-carboxylase deficiency
Nutritional therapy for selected inborn errors of metabolism.
peptidyl-glutamate 4-carboxylase deficiency
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
peptidyl-glutamate 4-carboxylase deficiency
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
peptidyl-glutamate 4-carboxylase deficiency
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Organic aciduria in neonatal multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Outcome of organic acidurias in china.
peptidyl-glutamate 4-carboxylase deficiency
Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.
peptidyl-glutamate 4-carboxylase deficiency
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
peptidyl-glutamate 4-carboxylase deficiency
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
peptidyl-glutamate 4-carboxylase deficiency
Phenotypic variation in biotinidase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
peptidyl-glutamate 4-carboxylase deficiency
Prenatal treatment of biotin responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Prenatal treatment of multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Protein-bound biotin: a consideration in multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Pyroglutamic aciduria in propionyl CoA carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.
peptidyl-glutamate 4-carboxylase deficiency
Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
peptidyl-glutamate 4-carboxylase deficiency
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
peptidyl-glutamate 4-carboxylase deficiency
Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.
peptidyl-glutamate 4-carboxylase deficiency
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
peptidyl-glutamate 4-carboxylase deficiency
Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.
peptidyl-glutamate 4-carboxylase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
peptidyl-glutamate 4-carboxylase deficiency
Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings.
peptidyl-glutamate 4-carboxylase deficiency
Simplified method for the chemical diagnosis of organic aciduria using GC/MS.
peptidyl-glutamate 4-carboxylase deficiency
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
peptidyl-glutamate 4-carboxylase deficiency
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.
peptidyl-glutamate 4-carboxylase deficiency
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Studies on inborn errors of metabolism in Norway.
peptidyl-glutamate 4-carboxylase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
peptidyl-glutamate 4-carboxylase deficiency
The biotin-dependent carboxylase deficiencies.
peptidyl-glutamate 4-carboxylase deficiency
The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.
peptidyl-glutamate 4-carboxylase deficiency
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
peptidyl-glutamate 4-carboxylase deficiency
The neonatal form of biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Two forms of biotin-responsive multiple carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
peptidyl-glutamate 4-carboxylase deficiency
Urinary acid profiles of asymptomatic propionyl CoA carboxylase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
peptidyl-glutamate 4-carboxylase deficiency
[3-methylc-rotonyl-CoA carboxylase deficiency: a case report]
peptidyl-glutamate 4-carboxylase deficiency
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
peptidyl-glutamate 4-carboxylase deficiency
[Applications of mass spectrometry for clinical laboratory test]
peptidyl-glutamate 4-carboxylase deficiency
[Biotin deficiency in the germ-free rat and propionic acidemia]
peptidyl-glutamate 4-carboxylase deficiency
[Biotin-dependent carboxylase deficiency]
peptidyl-glutamate 4-carboxylase deficiency
[Biotin-responsive multiple carboxylase deficiency]
peptidyl-glutamate 4-carboxylase deficiency
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
peptidyl-glutamate 4-carboxylase deficiency
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
peptidyl-glutamate 4-carboxylase deficiency
[Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients]
peptidyl-glutamate 4-carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
peptidyl-glutamate 4-carboxylase deficiency
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency.]
peptidyl-glutamate 4-carboxylase deficiency
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency]
peptidyl-glutamate 4-carboxylase deficiency
[Gene variant analysis of a patient with multiple carboxylase deficiency].
peptidyl-glutamate 4-carboxylase deficiency
[Infant boy with propionic acidemia: anesthetic implications]
peptidyl-glutamate 4-carboxylase deficiency
[Juvenile optic neuropathy caused by Km variants of biotinidase]
peptidyl-glutamate 4-carboxylase deficiency
[Multiple biotin-dependent carboxylase deficiencies (author's transl)]
peptidyl-glutamate 4-carboxylase deficiency
[Multiple carboxylase deficiency]
peptidyl-glutamate 4-carboxylase deficiency
[Quantitative analysis of urinary organic acid]
peptidyl-glutamate 4-carboxylase deficiency
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency]
Peripheral Nervous System Diseases
Correction: Correction: Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Peripheral Nervous System Diseases
Correction: Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Peripheral Nervous System Diseases
Inactive matrix gla protein plasma levels are associated with peripheral neuropathy in Type 2 diabetes.
Phenylketonurias
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Phenylketonurias
A qualitative assessment of biotinidase deficiency.
Phenylketonurias
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Phenylketonurias
Cases of inborn errors of metabolism diagnosed in children with autism.
Phenylketonurias
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Phenylketonurias
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Phenylketonurias
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Phenylketonurias
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Phenylketonurias
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
phosphatidylcholine-sterol o-acyltransferase deficiency
Studies on inborn errors of metabolism in Norway.
Prediabetic State
The low levels of bone morphogenic protein-4 and its antagonist noggin in type 2 diabetes.
Propionic Acidemia
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Propionic Acidemia
Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.
Propionic Acidemia
Acute psychosis in propionic acidemia: 2 case reports.
Propionic Acidemia
Adult-onset chorea and dementia with propionic acidemia.
Propionic Acidemia
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Propionic Acidemia
Anaplerotic therapy in propionic acidemia.
Propionic Acidemia
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
Propionic Acidemia
Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl.
Propionic Acidemia
Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.
Propionic Acidemia
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Propionic Acidemia
Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group.
Propionic Acidemia
Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.
Propionic Acidemia
Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
Propionic Acidemia
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Propionic Acidemia
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Propionic Acidemia
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
Propionic Acidemia
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Propionic Acidemia
Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.
Propionic Acidemia
Generation of isogenic Propionyl-CoA carboxylase beta subunit (PCCB) deficient induced pluripotent stem cell lines.
Propionic Acidemia
Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.
Propionic Acidemia
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
Propionic Acidemia
Human propionyl CoA carboxylase: some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia.
Propionic Acidemia
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
Propionic Acidemia
Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia.
Propionic Acidemia
Identification of 3-hydroxy-3-ethylglutaric acid in urine of patients with propionic acidaemia.
Propionic Acidemia
Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia.
Propionic Acidemia
Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
Propionic Acidemia
Long-term follow-up with filter paper samples in patients with propionic acidemia.
Propionic Acidemia
Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia.
Propionic Acidemia
Metabolic annotation of 2-ethylhydracrylic acid.
Propionic Acidemia
Metabolic changes associated with hyperammonemia in patients with propionic acidemia.
Propionic Acidemia
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Propionic Acidemia
Molecular basis for genetic complementation in propionyl CoA carboxylase deficiency.
Propionic Acidemia
Mutation analysis in 54 propionic acidemia patients.
Propionic Acidemia
Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.
Propionic Acidemia
Outcome of organic acidurias in china.
Propionic Acidemia
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
Propionic Acidemia
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.
Propionic Acidemia
Pyroglutamic aciduria in propionyl CoA carboxylase deficiency.
Propionic Acidemia
Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency.
Propionic Acidemia
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
Propionic Acidemia
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience.
Propionic Acidemia
Simplified method for the chemical diagnosis of organic aciduria using GC/MS.
Propionic Acidemia
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
Propionic Acidemia
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Propionic Acidemia
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
Propionic Acidemia
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
Propionic Acidemia
Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia.
Propionic Acidemia
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
Propionic Acidemia
Urinary acid profiles of asymptomatic propionyl CoA carboxylase deficiency.
Propionic Acidemia
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
Propionic Acidemia
[Biotin deficiency in the germ-free rat and propionic acidemia]
Propionic Acidemia
[Diagnosis and follow up of 23 children with organic acidurias]
Propionic Acidemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Propionic Acidemia
[Infant boy with propionic acidemia: anesthetic implications]
Protein Deficiency
Inhibition of bone morphogenetic protein signal transduction prevents the medial vascular calcification associated with matrix Gla protein deficiency.
Protein Deficiency
Matrix Gla protein deficiency causes arteriovenous malformations in mice.
Protein Deficiency
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.
Protein Deficiency
Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency.
Protein-Energy Malnutrition
Biotin supplementation affects lymphocyte carboxylases and plasma biotin in severe protein-energy malnutrition.
Pseudoxanthoma Elasticum
Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules.
Pseudoxanthoma Elasticum
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Pseudoxanthoma Elasticum
Matrix Gla Protein and Alkaline Phosphatase Are Differently Modulated in Human Dermal Fibroblasts from PXE Patients and Controls.
Pseudoxanthoma Elasticum
Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients.
Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum: Reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6(-)(/)(-)).
Pseudoxanthoma Elasticum
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.
Pseudoxanthoma Elasticum
The local calcification inhibitor matrix Gla protein in pseudoxanthoma elasticum.
Pseudoxanthoma Elasticum
Vitamin K-dependent carboxylation.
Psoriasis
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy.
Pulmonary Disease, Chronic Obstructive
Low Vitamin K Status Is Associated with Increased Elastin Degradation in Chronic Obstructive Pulmonary Disease.
pyruvate carboxylase deficiency
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Pyruvate Carboxylase Deficiency Disease
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Renal Insufficiency, Chronic
Arterial calcifications.
Renal Insufficiency, Chronic
Assessment of Matrix Gla Protein, Klotho Gene Polymorphisms, and Oxidative Stress in Chronic Kidney Disease.
Renal Insufficiency, Chronic
Correlations of Plasma Desphosphorylated Uncarboxylated Matrix Gla Protein with Vascular Calcification and Vascular Stiffness in Chronic Kidney Disease.
Renal Insufficiency, Chronic
Growth Arrest-specific 6 Protein and Matrix Gla Protein in Hemodialysis Patients.
Renal Insufficiency, Chronic
Impaired vitamin K recycling in uremia is rescued by vitamin K supplementation.
Renal Insufficiency, Chronic
Matrix GLA protein gene polymorphisms: clinical correlates and cardiovascular mortality in chronic kidney disease patients.
Renal Insufficiency, Chronic
Matrix Gla protein is an independent predictor of both intimal and medial vascular calcification in chronic kidney disease.
Renal Insufficiency, Chronic
Plasma Desphospho-Uncarboxylated Matrix Gla Protein as a Marker of Kidney Damage and Cardiovascular Risk in Advanced Stage of Chronic Kidney Disease.
Renal Insufficiency, Chronic
Predictors of coronary artery calcification and its association with cardiovascular events in patients with chronic kidney disease.
Renal Insufficiency, Chronic
The Association of dp-ucMGP with Cardiovascular Morbidity and Decreased Renal Function in Diabetic Chronic Kidney Disease.
Renal Insufficiency, Chronic
The bone-vascular axis in chronic kidney disease.
Renal Insufficiency, Chronic
The circulating inactive form of matrix gla protein is a surrogate marker for vascular calcification in chronic kidney disease: a preliminary report.
Renal Insufficiency, Chronic
The Role of Vitamin K Status in Cardiovascular Health: Evidence from Observational and Clinical Studies.
Renal Insufficiency, Chronic
Vascular Calcification in Chronic Kidney Disease: The Role of Vitamin K- Dependent Matrix Gla Protein.
Respiratory Distress Syndrome, Newborn
Management of a patient with holocarboxylase synthetase deficiency.
Rotator Cuff Tear Arthropathy
Calcium deposition and associated chronic diseases (atherosclerosis, diffuse idiopathic skeletal hyperostosis, and others).
Seizures
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Seizures
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
Seizures
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]
Sepsis
Cyclosporine A attenuates cardiac dysfunction induced by sepsis via inhibiting calcineurin and activating AMPK signaling.
short-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
short-chain acyl-coa dehydrogenase deficiency
Quantitative acylcarnitine determination by UHPLC-MS/MS - Going beyond tandem MS acylcarnitine "profiles".
short-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
short-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Sjogren's Syndrome
Calcinosis cutis associated with primary Sjogren's syndrome: strong expression of osteonectin and matrix Gla protein.
Sleep Apnea, Obstructive
Bone metabolism parameters and inactive matrix Gla protein in patients with obstructive sleep apnea.
Spondylitis, Ankylosing
Decreased local and systematic matrix Gla protein (MGP) expression and its link to radiographic progression in ankylosing spondylitis patients.
Squamous Cell Carcinoma of Head and Neck
Role of the AMPK/ACC Signaling Pathway in TRPP2-Mediated Head and Neck Cancer Cell Proliferation.
Starvation
Changes in the properties of cytosolic acetyl-CoA carboxylase studied in cold-clamped liver samples from fed, starved and starved-refed rats.
Starvation
Differential effect of total food withdrawal and dietary protein restriction on brain content of free histidine in the rat.
Starvation
Induction of beta-methylcrotonyl-coenzyme A carboxylase in higher plant cells during carbohydrate starvation: evidence for a role of MCCase in leucine catabolism.
Starvation
On the mechanism of gluconeogenesis and its regulation. 3. The glucogenic capacity and the activities of pyruvate carboxylase and PEP-carboxylase of rat kidney and rat liver after cortisol treatment and starvation.
Stenosis, Pulmonary Artery
Matrix GLA protein, an inhibitory morphogen in pulmonary vascular development.
steroid 21-monooxygenase deficiency
Fetal drug therapy.
Stomach Neoplasms
Increased expression of phospho-acetyl-CoA carboxylase protein is an independent prognostic factor for human gastric cancer without lymph node metastasis.
Stomach Neoplasms
Intracellular matrix Gla protein promotes tumor progression by activating JAK2/STAT5 signaling in gastric cancer.
Stroke
[ANALYSIS OF ?-GLUTAMYL CARBOXYLASE GENE rs2592551 POLYMORPHISM ASSOCIATION WITH ISCHEMIC ATHEROTHROMBOTIC STROKE].
Stroke
[Analysis of matrix Gla-protein (MGP) G-7A polymorphism association with ischemic atherothrombotic stroke in persons with risk factors].
Stroke
[The polymorphism of matrix Gla-protein gene in ischemic atherothrombotic stroke patients].
Tauopathies
Biotin rescues mitochondrial dysfunction and neurotoxicity in a tauopathy model.
Tooth Loss
Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women.
Tuberculosis
AccD6, a member of the Fas II locus, is a functional carboxyltransferase subunit of the acyl-coenzyme A carboxylase in Mycobacterium tuberculosis.
Tuberculosis
Crystal structure of the essential biotin-dependent carboxylase AccA3 from Mycobacterium tuberculosis.
Tuberculosis
Identification of Mycobacterium avium genes that affect invasion of the intestinal epithelium.
Tyrosinemias
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Tyrosinemias
[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases]
Tyrosinemias
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Urea Cycle Disorders, Inborn
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
Urea Cycle Disorders, Inborn
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Uremia
Attenuation of Chondrogenic Transformation in Vascular Smooth Muscle by Dietary Quercetin in the MGP-Deficient Mouse Model.
Urolithiasis
Activity and Expression of Vitamin K-Dependent Gamma-Glutamyl Carboxylase in Patients with Calcium Oxalate Urolithiasis.
Urolithiasis
Decreased renal vitamin K-dependent gamma-glutamyl carboxylase activity in calcium oxalate calculi patients.
Urolithiasis
Enhanced renal vitamin-K-dependent gamma-glutamyl carboxylase activity in experimental rat urolithiasis.
Urolithiasis
Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis.
Varicose Veins
Identification of differentially expressed genes in human varicose veins: involvement of matrix gla protein in extracellular matrix remodeling.
Varicose Veins
[Lower extremity varicose veins in childhood and at a young age: Mechanism of development and specific features].
Vascular Calcification
?-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Vascular Calcification
A role for the endothelium in vascular calcification.
Vascular Calcification
Arterial stiffness, vascular calcification and bone metabolism in chronic kidney disease.
Vascular Calcification
Association of kidney function and uncarboxylated matrix Gla protein: Data from the Heart and Soul Study.
Vascular Calcification
Association of matrix ?-carboxyglutamic acid protein levels with insulin resistance and Lp(a) in diabetes: A cross-sectional study.
Vascular Calcification
Association of Matrix Gla protein gene (rs1800801, rs1800802, rs4236) polymorphism with vascular calcification and atherosclerotic disease: a meta-analysis.
Vascular Calcification
Bone metabolism regulators and arterial stiffness in postmenopausal women.
Vascular Calcification
Calcimimetic and vitamin D analog use in hemodialyzed patients is associated with increased levels of vitamin K dependent proteins.
Vascular Calcification
Calcitriol Accelerates Vascular Calcification Irrespective of Vitamin K Status in a Rat Model of Chronic Kidney Disease with Hyperphosphatemia and Secondary Hyperparathyroidism.
Vascular Calcification
Calcium scores and matrix Gla protein levels: association with vitamin K status.
Vascular Calcification
Cardiac valve calcification and use of anticoagulants: Preliminary observation of a potentially modifiable risk factor.
Vascular Calcification
Cell differentiation in vascular calcification.
Vascular Calcification
Circulating calcification inhibitors and vascular properties in children after renal transplantation.
Vascular Calcification
Circulating Levels of Dephosphorylated-Uncarboxylated Matrix Gla Protein in Patients with Acute Coronary Syndrome.
Vascular Calcification
Circulating matrix Gla protein is associated with coronary artery calcification and vitamin K status in healthy women.
Vascular Calcification
Circulating matrix Gla protein: a potential tool to identify minor carotid stenosis with calcification in a risk population.
Vascular Calcification
Circulating species of matrix Gla protein and the risk of vascular calcification in healthy women.
Vascular Calcification
Concerns about clinical efficacy and safety of warfarin in diabetic patients with atrial fibrillation.
Vascular Calcification
Correlations of Plasma Desphosphorylated Uncarboxylated Matrix Gla Protein with Vascular Calcification and Vascular Stiffness in Chronic Kidney Disease.
Vascular Calcification
Dephosphorylated-uncarboxylated Matrix Gla protein concentration is predictive of vitamin K status and is correlated with vascular calcification in a cohort of hemodialysis patients.
Vascular Calcification
Does Prolonged Warfarin Exposure Potentiate Coronary Calcification in Humans? Results of the Warfarin and Coronary Calcification Study.
Vascular Calcification
Emerging Role of Vitamins D and K in Modulating Uremic Vascular Calcification: The Aspect of Passive Calcification.
Vascular Calcification
Erratum: Vascular calcification in patients with type 2 diabetes: the involvement of matrix Gla protein.
Vascular Calcification
Expression of matrix Gla protein (MGP) in an in vitro model of vascular calcification.
Vascular Calcification
Functional Study of the Vitamin K Cycle Enzymes in Live Cells.
Vascular Calcification
Gamma-glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Vascular Calcification
Gene polymorphism association studies in dialysis: the nutrition-inflammation axis.
Vascular Calcification
Growth Arrest-specific 6 Protein and Matrix Gla Protein in Hemodialysis Patients.
Vascular Calcification
Impaired vitamin K recycling in uremia is rescued by vitamin K supplementation.
Vascular Calcification
Inactivation of the osteopontin gene enhances vascular calcification of matrix Gla protein-deficient mice: evidence for osteopontin as an inducible inhibitor of vascular calcification in vivo.
Vascular Calcification
Inactive matrix Gla protein is elevated in patients with inflammatory bowel disease.
Vascular Calcification
Inactive Matrix Gla Protein, Arterial Stiffness, and Endothelial Function in African American Hemodialysis Patients.
Vascular Calcification
Increased Peripheral Arterial Calcification in Patients Receiving Warfarin.
Vascular Calcification
Inhibiting the progression of arterial calcification with vitamin K in HemoDialysis patients (iPACK-HD) trial: rationale and study design for a randomized trial of vitamin K in patients with end stage kidney disease.
Vascular Calcification
Inhibition of bone morphogenetic protein signal transduction prevents the medial vascular calcification associated with matrix Gla protein deficiency.
Vascular Calcification
Magnesium prevents vascular calcification in Klotho deficiency.
Vascular Calcification
Matrix Gla protein (MGP) promoter polymorphic variants and its serum level in stenosis of coronary artery.
Vascular Calcification
Matrix Gla protein expression in NRK-52E cells exposed to oxalate and calcium oxalate monohydrate crystals.
Vascular Calcification
Matrix Gla protein is an independent predictor of both intimal and medial vascular calcification in chronic kidney disease.
Vascular Calcification
Matrix Gla Protein is Involved in Crystal Formation in Kidney of Hyperoxaluric Rats.
Vascular Calcification
Matrix gla protein is regulated by a mechanism functionally related to the calcium-sensing receptor.
Vascular Calcification
Matrix gla protein metabolism in vascular smooth muscle and role in uremic vascular calcification.
Vascular Calcification
Matrix Gla protein polymorphisms are associated with coronary artery calcification in men.
Vascular Calcification
Mechanical microenvironment regulation of age-related diseases involving degeneration of human skeletal and cardiovascular systems.
Vascular Calcification
Mineral exploration: search for the mechanism of vascular calcification and beyond: the 2003 Jeffrey M. Hoeg Award lecture.
Vascular Calcification
Missense mutation of VKORC1 leads to medial arterial calcification in rats.
Vascular Calcification
Molecular mechanisms mediating vascular calcification: role of matrix Gla protein.
Vascular Calcification
New insights for matrix Gla protein, vascular calcification and cardiovascular risk and outcome.
Vascular Calcification
Novel conformation-specific antibodies against matrix gamma-carboxyglutamic acid (Gla) protein: undercarboxylated matrix Gla protein as marker for vascular calcification.
Vascular Calcification
Novel insights into uremic vascular calcification: role of matrix Gla protein and alpha-2-Heremans Schmid glycoprotein/fetuin.
Vascular Calcification
Novel mechanisms in accelerated vascular calcification in renal disease patients.
Vascular Calcification
Optical imaging of hydroxyapatite in the calcified vasculature of transgenic animals.
Vascular Calcification
Polymorphism in the human matrix Gla protein gene is associated with the progression of vascular calcification in maintenance hemodialysis patients.
Vascular Calcification
Polymorphisms of the human matrix gla protein (MGP) gene, vascular calcification, and myocardial infarction.
Vascular Calcification
Prevalence of Vertebral Fractures, Vascular Calcifications, and Mortality in Warfarin Treated Hemodialysis Patients.
Vascular Calcification
Proatherogenic pathways leading to vascular calcification.
Vascular Calcification
Proteomic analysis of calcified abdominal and thoracic aortic aneurysms.
Vascular Calcification
Quercetin attenuates warfarin-induced vascular calcification in vitro independently from matrix Gla protein.
Vascular Calcification
Randall's plaque and calcium oxalate stone formation: role for immunity and inflammation.
Vascular Calcification
Regulatory mechanisms in vascular calcification.
Vascular Calcification
Relationship between immunological rejection and matrix GLA protein in cryopreserved vascular allografts.
Vascular Calcification
Relationship of matrix Gla protein and vitamin K with vascular calcification in hemodialysis patients.
Vascular Calcification
Role of calcification inhibitors in the pathogenesis of vascular calcification in chronic kidney disease (CKD).
Vascular Calcification
Role of matrix Gla protein in angiotensin II-induced exacerbation of vascular calcification.
Vascular Calcification
Role of Matrix Gla Protein in the Complex Network of Coronary Artery Disease: A Comprehensive Review.
Vascular Calcification
Serum Levels of Calcification Inhibitors in Patients With Intracerebral Hemorrhage.
Vascular Calcification
Smooth muscle cell phenotypic transition associated with calcification: upregulation of Cbfa1 and downregulation of smooth muscle lineage markers.
Vascular Calcification
T-138C polymorphism of matrix gla protein promoter alters its expression but is not directly associated with atherosclerotic vascular calcification.
Vascular Calcification
The association between uncarboxylated matrix Gla protein and lipoprotein-associated phospholipase A2.
Vascular Calcification
The association of uncarboxylated matrix Gla protein with mitral annular calcification differs by diabetes status: The Heart and Soul study.
Vascular Calcification
The associations of fibroblast growth factor 23 and uncarboxylated matrix Gla protein with mortality in coronary artery disease: the Heart and Soul Study.
Vascular Calcification
The calcimimetic calindol prevents high phosphate-induced vascular calcification by upregulating matrix GLA protein.
Vascular Calcification
The circulating inactive form of matrix gla protein is a surrogate marker for vascular calcification in chronic kidney disease: a preliminary report.
Vascular Calcification
The coincidence of low vitamin K status and high expression of growth differentiation factor 15 may indicate increased mortality risk in stable coronary heart disease patients.
Vascular Calcification
The effect of vitamin K2 supplementation on vascular calcification in haemodialysis patients: a 1-year follow-up randomized trial.
Vascular Calcification
The influence of phosphate, calcium and magnesium on matrix Gla-protein and vascular calcification: a systematic review.
Vascular Calcification
The Inhibitory Roles of Vitamin K in Progression of Vascular Calcification.
Vascular Calcification
The role of bone morphogenetic protein signaling in vascular calcification.
Vascular Calcification
The role of matrix Gla protein (MGP) in vascular calcification.
Vascular Calcification
The Role of Vitamin K in Humans: Implication in Aging and Age-Associated Diseases.
Vascular Calcification
Thyroid hormone targets matrix Gla protein gene associated with vascular smooth muscle calcification.
Vascular Calcification
Total chemical synthesis of human matrix Gla protein.
Vascular Calcification
Two Sides of MGP-Null Arterial Disease: Chondrogenic Lesions Dependent on Transglutaminase 2 and Elastin Fragmentation Associated with Induction of Adipsin.
Vascular Calcification
Undercarboxylated matrix Gla protein is associated with indices of heart failure and mortality in symptomatic aortic stenosis.
Vascular Calcification
Vascular calcification in chronic kidney disease.
Vascular Calcification
Vascular calcification in chronic kidney disease: mechanisms and clinical implications.
Vascular Calcification
Vascular calcification in chronic kidney disease: pathogenesis and clinical implications.
Vascular Calcification
Vascular Calcification in Chronic Kidney Disease: The Role of Vitamin K- Dependent Matrix Gla Protein.
Vascular Calcification
Vascular calcification in patients with type 2 diabetes: the involvement of matrix Gla protein.
Vascular Calcification
Vascular calcification: expression patterns of the osteoblast-specific gene core binding factor alpha-1 and the protective factor matrix gla protein in human atherogenesis.
Vascular Calcification
Vascular smooth muscle cell differentiation to an osteogenic phenotype involves TRPM7 modulation by magnesium.
Vascular Calcification
Vitamin K and vascular calcifications.
Vascular Calcification
Vitamin K status and vascular calcification: evidence from observational and clinical studies.
Vascular Calcification
Vitamin K Supplementation for the Prevention of Cardiovascular Disease: Where Is the Evidence? A Systematic Review of Controlled Trials.
Vascular Calcification
Vitamin K-Dependent Carboxylation of Matrix Gla Protein Influences the Risk of Calciphylaxis.
Vascular Calcification
Vitamin K2 Dependent Matrix Gla Protein Relating to Abdominal Aortic Aneurysm and Overall Mortality: A Combined Case Control and Cohort Study.
Vascular Calcification
Vitamin K2 supplementation in haemodialysis patients: a randomized dose-finding study.
Vascular Calcification
Vitamin K: key vitamin in controlling vascular calcification in chronic kidney disease.
Vascular Calcification
Warfarin accelerated vascular calcification and worsened cardiac dysfunction in remnant kidney mice.
Vascular Calcification
Warfarin in nonvalvular atrial fibrillation-Time for a change?
Vascular Calcification
Warfarin Induces Cardiovascular Damage in Mice.
Vascular Calcification
Wnt16 Attenuates TGF?-Induced Chondrogenic Transformation in Vascular Smooth Muscle.
Vascular Calcification
[Current concepts of vascular calcification]
Vascular Calcification
[Mechanism of arterial calcification with regards to atherosclerotic calcification and medial artery calcification]
Vascular Calcification
[Vascular calcification and bone-related factors]
Vascular Calcification
[Vitamin K and vascular calcification]
Vascular Diseases
Inhibition of bone morphogenetic proteins protects against atherosclerosis and vascular calcification.
Vascular Diseases
Proline and gamma-carboxylated glutamate residues in matrix Gla protein are critical for binding of bone morphogenetic protein-4.
Vascular Diseases
Serum total matrix Gla protein: Reference interval in healthy adults and variations in patients with vascular and osteoarticular diseases.
Vascular Diseases
The abnormal status of uncarboxylated matrix Gla protein species represents an additional mortality risk in heart failure patients with vascular disease.
Ventricular Dysfunction, Left
Epidemiological and histological findings implicate matrix Gla protein in diastolic left ventricular dysfunction.
Vitamin D Deficiency
Vitamin D Deficiency Attenuates Acute Alcohol-Induced Hepatic Lipid Accumulation in Mice.
Vitamin K Deficiency
A study about mechanisms of des-gamma-carboxy prothrombin's production in hepatocellular carcinoma.
Vitamin K Deficiency
Associations of vitamin K status with mortality and cardiovascular events in peritoneal dialysis patients.
Vitamin K Deficiency
Calciphylaxis in a dialysis patient successfully treated with high-dose vitamin K supplementation.
Vitamin K Deficiency
Calciphylaxis.
Vitamin K Deficiency
Circulating nonphosphorylated carboxylated matrix gla protein predicts survival in ESRD.
Vitamin K Deficiency
Effect of 6-Month Vitamin D Supplementation on Plasma Matrix Gla Protein in Older Adults.
Vitamin K Deficiency
Impaired vitamin K recycling in uremia is rescued by vitamin K supplementation.
Vitamin K Deficiency
Inactive matrix Gla protein is causally related to adverse health outcomes: a Mendelian randomization study in a Flemish population.
Vitamin K Deficiency
Matrix Gla protein mRNA expression in cultured type II pneumocytes.
Vitamin K Deficiency
The warfarin embryopathy: a rat model showing maxillonasal hypoplasia and other skeletal disturbances.
Vitamin K Deficiency
Treatment to reduce vascular calcification in hemodialysis patients using vitamin K (Trevasc-HDK): A study protocol for a randomized controlled trial.
Vitamin K Deficiency
Vitamin K antagonism aggravates chronic kidney disease-induced neointimal hyperplasia and calcification in arterialized veins: role of vitamin K treatment?
Vitamin K Deficiency
Vitamin K2 Dependent Matrix Gla Protein Relating to Abdominal Aortic Aneurysm and Overall Mortality: A Combined Case Control and Cohort Study.
Vitamin K Deficiency
Vitamin K2 supplementation and arterial stiffness among renal transplant recipients-a single-arm, single-center clinical trial.
Wilms Tumor
Identification of key pathways and genes in different types of chronic kidney disease based on WGCNA.
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4.1.1.90 peptidyl-glutamate 4-carboxylase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
