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3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
3-hydroxyacyl-coa dehydrogenase deficiency
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
3-hydroxyacyl-coa dehydrogenase deficiency
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.
3-hydroxyacyl-coa dehydrogenase deficiency
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
3-hydroxyacyl-coa dehydrogenase deficiency
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
3-hydroxyacyl-coa dehydrogenase deficiency
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
3-hydroxyacyl-coa dehydrogenase deficiency
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
3-hydroxyacyl-coa dehydrogenase deficiency
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
acid phosphatase deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Acidosis
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Acidosis, Lactic
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation.
Acute Kidney Injury
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
acyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
acyl-coa dehydrogenase deficiency
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
acyl-coa dehydrogenase deficiency
Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment.
Adenocarcinoma
HADHA is a potential predictor of response to platinum-based chemotherapy for lung cancer.
Adrenal Hyperplasia, Congenital
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Adrenoleukodystrophy
Metabolic disorders in children.
Anemia, Sickle Cell
Prepregnancy testing for single-gene disorders by polar body analysis.
arylsulfatase (type i) deficiency
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Ataxia
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Biotinidase Deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Biotinidase Deficiency
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Blindness
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency.
Blindness
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Brain Diseases
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Breast Neoplasms
Association of HADHA expression with the risk of breast cancer: targeted subset analysis and meta-analysis of microarray data.
Carcinogenesis
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Carcinogenesis
The mRNA Expression Signature and Prognostic Analysis of Multiple Fatty Acid Metabolic Enzymes in Clear Cell Renal Cell Carcinoma.
Carcinoma
HADHA is a potential predictor of response to platinum-based chemotherapy for lung cancer.
Carcinoma
HADHA overexpression disrupts lipid metabolism and inhibits tumor growth in clear cell renal cell carcinoma.
Carcinoma
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Carcinoma
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.
Carcinoma, Hepatocellular
Defects in long-chain 3-hydroxy acyl-CoA dehydrogenase lead to hepatocellular carcinoma: A novel etiology of hepatocellular carcinoma.
Carcinoma, Renal Cell
HADHA overexpression disrupts lipid metabolism and inhibits tumor growth in clear cell renal cell carcinoma.
Carcinoma, Renal Cell
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Cardiomyopathies
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Cardiomyopathies
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Cardiomyopathies
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
Cardiomyopathies
Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.
Cardiomyopathies
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Cardiomyopathies
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Cardiomyopathies
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Cardiomyopathies
Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
Cardiomyopathies
Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
Cardiomyopathies
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
Cardiomyopathies
Long-chain fatty acid oxidation during early human development.
Cardiomyopathies
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.
Cardiomyopathies
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Cardiomyopathies
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?
Cardiomyopathies
[Hypoglycaemia without ketosis. A case report]
Cardiomyopathy, Dilated
Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase.
Cardiomyopathy, Dilated
Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Cardiomyopathy, Hypertrophic
Generation of an induced pluripotent stem cell line, ICGi028-A, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.E510Q mutation in HADHA.
Cardiomyopathy, Hypertrophic
Transient central diabetes insipidus induced by ketamine infusion.
Cardiomyopathy, Hypertrophic
Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
carnitine o-palmitoyltransferase deficiency
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Cataract
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Cataract
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
Charcot-Marie-Tooth Disease
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
Cholestasis
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
Cholestasis
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Choroidal Neovascularization
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY.
Citrullinemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Citrullinemia
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Citrullinemia
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Coma
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Cone-Rod Dystrophies
MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.
Congenital Abnormalities
[Acute liver failure related to inherited metabolic diseases in young children].
Congenital Hypothyroidism
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Congenital Hypothyroidism
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
COVID-19
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Cystic Fibrosis
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cystic Fibrosis
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
Cystic Fibrosis
Prepregnancy testing for single-gene disorders by polar body analysis.
Dyslipidemias
Tissue specific expression of human fatty acid oxidation enzyme genes in late pregnancy.
Encephalitis, Japanese
Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid ?-oxidation.
Enterocolitis, Necrotizing
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Epstein-Barr Virus Infections
[EBV infection revealing a long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in a 3-year-old boy.]
Fatty Liver
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
Fatty Liver
Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy.
Fatty Liver
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
Fatty Liver
Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.
Fatty Liver
beta-Oxidation in human alcoholic and non-alcoholic hepatic steatosis.
Fatty Liver
Cryo-EM structure of human mitochondrial trifunctional protein.
Fatty Liver
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - A common feature of the pregnancy complication?
Fatty Liver
Highly active antiretroviral therapy does not affect mitochondrial beta-oxidation of fatty acids: an in vitro study in fibroblasts.
Fatty Liver
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Fatty Liver
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
Fatty Liver
Lack of common mutation in the alfa-subunit of the mitochondrial trifunctional protein and the polymorphism of CYP2E1 in three Japanese women with acute fatty liver of pregnancy/HELLP syndrome.
Fatty Liver
Liver diseases unique to pregnancy: A 2010 update.
Fatty Liver
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.
Fatty Liver
Protein acetylation in mitochondria plays critical functions in the pathogenesis of fatty liver disease.
Fatty Liver
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Fetal Growth Retardation
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
Fructose Intolerance
[Acute liver failure related to inherited metabolic diseases in young children].
Galactosemias
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Galactosemias
[Acute liver failure related to inherited metabolic diseases in young children].
Gaucher Disease
Prepregnancy testing for single-gene disorders by polar body analysis.
Gaucher Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Genetic Diseases, Inborn
Energy exchangers with LCT as a precision method for diet control in LCHADD.
Genetic Diseases, Inborn
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Genetic Diseases, Inborn
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Glucose Intolerance
Inhibition of mitochondrial ?-oxidation by miR-107 promotes hepatic lipid accumulation and impairs glucose tolerance in vivo.
glutaryl-coa dehydrogenase (etf) deficiency
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
Heart Failure
Chronic congestive heart failure elicits adaptations of endurance exercise in diaphragmatic muscle.
HELLP Syndrome
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
HELLP Syndrome
Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
HELLP Syndrome
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
HELLP Syndrome
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
HELLP Syndrome
Liver disease in pregnancy and fetal fatty acid oxidation defects.
HELLP Syndrome
Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.
HELLP Syndrome
Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome.
HELLP Syndrome
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
HELLP Syndrome
[Variation of long-chain 3-hydroxyacyl CoA dehydrogenase DNA methylated modification and correlation with gene mRNA expression of early-onset preeclampsia, HELLP syndrome and antiphospholipid syndrome in trophoblast cells of placenta].
Hemophilia B
Prepregnancy testing for single-gene disorders by polar body analysis.
Hepatitis C
Hepatitis C virus attenuates mitochondrial lipid ?-oxidation by down-regulating mitochondrial trifunctional protein expression.
Hepatolenticular Degeneration
Metabolic disorders in children.
Hepatomegaly
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Hepatomegaly
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
HIV Infections
Reconnaissance of the candidate genes involved in the pathogenesis of human immunodeficiency virus and targeted by antiretroviral therapy.
Homocystinuria
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Homocystinuria
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Hyperargininemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Hyperargininemia
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Hyperglycemia
Inhibition of mitochondrial ?-oxidation by miR-107 promotes hepatic lipid accumulation and impairs glucose tolerance in vivo.
Hyperphosphatemia
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypocalcemia
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypoglycemia
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
Hypoglycemia
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Hypoglycemia
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
Hypoglycemia
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypoglycemia
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Hypoglycemia
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
Hypoglycemia
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death.
Hypoglycemia
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities.
Hypoglycemia
Long-chain fatty acid oxidation during early human development.
Hypoglycemia
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
Hypoparathyroidism
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Hypoparathyroidism
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Hypoparathyroidism
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Hypoparathyroidism
Mutations in HADHB, which encodes the ?-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Hypoparathyroidism
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
Hypoparathyroidism
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Infections
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Infections
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Insulin Resistance
Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance.
Insulin Resistance
Selective hepatic insulin resistance in mice heterozygous for a mitochondrial trifunctional protein defect.
isovaleryl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Leukodystrophy, Globoid Cell
Metabolic disorders in children.
Lipidoses
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Liver Cirrhosis
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.
Liver Diseases
Absence of G1528C mutation in long-chain 3-hydroxyacyl-CoA dehydrogenase in four Indian patients with pregnancy-related liver disease.
Liver Diseases
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Liver Diseases
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
Liver Diseases
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Liver Diseases
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - A common feature of the pregnancy complication?
Liver Diseases
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
Liver Diseases
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
Liver Diseases
Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.
Liver Diseases
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
Liver Diseases
Protein acetylation in mitochondria plays critical functions in the pathogenesis of fatty liver disease.
Liver Diseases
Regulation of Mitochondrial Trifunctional Protein Modulates Nonalcoholic Fatty Liver Disease in Mice.
Liver Diseases
Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency.
Liver Failure
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Liver Failure
[Hypoglycaemia without ketosis. A case report]
long-chain acyl-coa dehydrogenase deficiency
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.
long-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
long-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
long-chain acyl-coa dehydrogenase deficiency
Round Table Discussion.
long-chain acyl-coa dehydrogenase deficiency
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Altered Body Composition, and Energy Expenditure but Normal Glucose Tolerance among Humans with a Long-Chain Fatty Acid Oxidation Disorder.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Analysis of 3-hydroxydodecanedioic acid for studies of fatty acid metabolic disorders: preparation of stable isotope standards.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Clinical applications of 3-hydroxy fatty acid analysis by gas chromatography-mass spectrometry.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Cryo-EM structure of human mitochondrial trifunctional protein.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Deregulation of mitochondrial functions provoked by long-chain fatty acid accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial permeability transition deficiencies in rat heart--mitochondrial permeability transition pore opening as a potential contributing pathomechanism of cardiac alterations in these disorders.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscle.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Effect of Feeding, Exercise, and Genotype on Plasma 3-Hydroxyacylcarnitines in Children With LCHAD Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Effects of a low-dose L-carnitine supplement on an adult patient with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - A common feature of the pregnancy complication?
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Energy exchangers with LCT as a precision method for diet control in LCHADD.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Erratum to "Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients" [Eur J Paediatr Neuro 20 (2016) 38-44].
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Fatty Acid Accumulation and Resulting PPAR? Activation in Fibroblasts due to Trifunctional Protein Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Fatty acid oxidation disorders: outcome and long-term prognosis.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Formation of the enzyme complex in mitochondria is required for function of trifunctional beta-oxidation protein.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
High vulnerability of the heart and liver to 3-hydroxypalmitic acid-induced disruption of mitochondrial functions in intact cell systems.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Improved detection of the G1528C mutation in LCHAD deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Increased lipolysis in LCHAD deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Liver disease in pregnancy and fetal fatty acid oxidation defects.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C).
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Management of an LCHADD Patient During Pregnancy and High Intensity Exercise.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency in a lethal neonate.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency: A rare cause of adult-onset rhabdomyolysis.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Molecular genetics of preeclampsia and HELLP syndrome - A review.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Morphological investigation of two sibling autopsy cases of mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mutations in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase are Associated with Placental Maternal Floor Infarction/Massive Perivillous Fibrin Deposition.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Neonatal screening for defects of the mitochondrial trifunctional protein.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots-A Systematic Review of Test Accuracy.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub "Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation".
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Round Table Discussion.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Transient central diabetes insipidus induced by ketamine infusion.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
[Acute liver failure related to inherited metabolic diseases in young children].
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
[EBV infection revealing a long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in a 3-year-old boy.]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
[Hypoglycaemia without ketosis. A case report]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, asociation with HELLP and magnetic resonance spectroscopy findings].
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
[Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
[Mitochondrial trifunctional protein deficiency]
Lung Neoplasms
HADHA is a potential predictor of response to platinum-based chemotherapy for lung cancer.
Lymphohistiocytosis, Hemophagocytic
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Lymphoma
Fatty acid beta oxidation enzyme HADHA is a novel potential therapeutic target in malignant lymphoma.
Lymphoma
HADHB, a fatty acid beta-oxidation enzyme, is a potential prognostic predictor in malignant lymphoma.
Lymphoma, B-Cell
Fatty acid beta oxidation enzyme HADHA is a novel potential therapeutic target in malignant lymphoma.
Lymphoma, Large B-Cell, Diffuse
Fatty acid beta oxidation enzyme HADHA is a novel potential therapeutic target in malignant lymphoma.
Maple Syrup Urine Disease
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Maple Syrup Urine Disease
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
medium-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
medium-chain acyl-coa dehydrogenase deficiency
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
medium-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
medium-chain acyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
medium-chain acyl-coa dehydrogenase deficiency
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Metabolic Diseases
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Metabolic Diseases
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.
Metabolic Diseases
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.
Metabolism, Inborn Errors
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Metabolism, Inborn Errors
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Metabolism, Inborn Errors
[Study of the inborn errors of mitochondrial fatty acid beta-oridation deficiency.]
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Mitochondrial Diseases
Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Multiple Sulfatase Deficiency Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Muscle Hypotonia
Highly thermostable RadA protein from the archaeon Pyrococcus woesei enhances specificity of simplex and multiplex PCR assays.
Muscle Hypotonia
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Muscle Hypotonia
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Muscle Weakness
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Muscle Weakness
Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
Muscle Weakness
[Hypoglycaemia without ketosis. A case report]
Muscular Diseases
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
Muscular Diseases
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.
Muscular Diseases
Improved detection of the G1528C mutation in LCHAD deficiency.
Myalgia
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
Myoglobinuria
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
Myoglobinuria
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
Myopia, Degenerative
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
Neoplasm Metastasis
MiR-612 regulates invadopodia of hepatocellular carcinoma by HADHA-mediated lipid reprogramming.
Neoplasm Metastasis
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Neoplasms
HADHA overexpression disrupts lipid metabolism and inhibits tumor growth in clear cell renal cell carcinoma.
Neoplasms
MiR-612 regulates invadopodia of hepatocellular carcinoma by HADHA-mediated lipid reprogramming.
Neoplasms
Prognostic significance of two lipid metabolism enzymes, HADHA and ACAT2, in clear cell renal cell carcinoma.
Neoplasms
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Neoplasms
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.
Neoplasms
Two-dimensional gel electrophoresis of gastric tissue in an alkaline pH range.
Neoplasms
[Interaction among abnormal fatty acid oxidation, endothelial function disorder, and oxidative stress in the onset of severe preeclampsia]
Nephrotic Syndrome
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association.
Nephrotic Syndrome
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Neurologic Manifestations
Long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies induce oxidative stress in rat brain.
Neurologic Manifestations
Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: a possible role of mPTP opening as a pathomechanism in these disorders?
Neutropenia
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Niemann-Pick Diseases
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Non-alcoholic Fatty Liver Disease
Acetylation of Mitochondrial Trifunctional Protein ?-subunit Enhances Its Stability to Promote Fatty Acid Oxidation and Is Decreased in NAFLD.
Non-alcoholic Fatty Liver Disease
Protein acetylation in mitochondria plays critical functions in the pathogenesis of fatty liver disease.
Non-alcoholic Fatty Liver Disease
Regulation of Mitochondrial Trifunctional Protein Modulates Nonalcoholic Fatty Liver Disease in Mice.
Obesity
Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
Obesity
The role of protein-mediated transport in regulating mitochondrial long-chain fatty acid oxidation.
Obstetric Labor, Premature
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
Overweight
Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
Overweight
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Pancreatic Neoplasms
Integrated lipidomics and proteomics reveal cardiolipin alterations, upregulation of HADHA and long chain fatty acids in pancreatic cancer stem cells.
Peripheral Nervous System Diseases
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Peripheral Nervous System Diseases
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Peripheral Nervous System Diseases
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients.
Peripheral Nervous System Diseases
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
Peripheral Nervous System Diseases
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Peripheral Nervous System Diseases
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Peripheral Nervous System Diseases
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Peroxisomal Disorders
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Phenylketonurias
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Phenylketonurias
Prepregnancy testing for single-gene disorders by polar body analysis.
Pneumonia
Transient central diabetes insipidus induced by ketamine infusion.
Polyneuropathies
Mutations in HADHB, which encodes the ?-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Polyneuropathies
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Polyneuropathies
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Pre-Eclampsia
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Pre-Eclampsia
Decreased mitochondrial fatty acid oxidation in placentas from women with preeclampsia.
Pre-Eclampsia
Fatty acid oxidation changes and the correlation with oxidative stress in different preeclampsia-like mouse models.
Pre-Eclampsia
Highly active antiretroviral therapy does not affect mitochondrial beta-oxidation of fatty acids: an in vitro study in fibroblasts.
Pre-Eclampsia
Inhibition of nitric oxide synthase lowers fatty acid oxidation in preeclampsia-like mice at early gestational stage.
Pre-Eclampsia
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
Pre-Eclampsia
[Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant]
Pre-Eclampsia
[The changes of LCHAD in preeclampsia with different clinical features and the correlation with NADPH P47-phox, p38MAPK-?, COX-2 and serum FFA and TG].
Pre-Eclampsia
[Variation of long-chain 3-hydroxyacyl-CoA dehydrogenase DNA methylation in placenta of different preeclampsia-like mouse models].
Pregnancy Complications
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - A common feature of the pregnancy complication?
Pregnancy Complications
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.
Pregnancy Complications
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Pregnancy Complications
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Propionic Acidemia
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Prostatic Neoplasms
A novel fatty acid-binding protein 5-estrogen-related receptor ? signaling pathway promotes cell growth and energy metabolism in prostate cancer cells.
Protein Deficiency
A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
Protein Deficiency
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.
Protein Deficiency
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
Protein Deficiency
Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.
Protein Deficiency
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
Protein Deficiency
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Protein Deficiency
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Protein Deficiency
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Cryo-EM structure of human mitochondrial trifunctional protein.
Protein Deficiency
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.
Protein Deficiency
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
Protein Deficiency
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
Protein Deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Protein Deficiency
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Protein Deficiency
Effects of a low-dose L-carnitine supplement on an adult patient with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Protein Deficiency
Fatty Acid Accumulation and Resulting PPAR? Activation in Fibroblasts due to Trifunctional Protein Deficiency.
Protein Deficiency
Formation of the enzyme complex in mitochondria is required for function of trifunctional beta-oxidation protein.
Protein Deficiency
Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.
Protein Deficiency
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
Protein Deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Protein Deficiency
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Protein Deficiency
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.
Protein Deficiency
Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
Protein Deficiency
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
Protein Deficiency
Long-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
Protein Deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Protein Deficiency
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
Protein Deficiency
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.
Protein Deficiency
Mitochondrial trifunctional protein deficiency in a lethal neonate.
Protein Deficiency
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
Protein Deficiency
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.
Protein Deficiency
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
Protein Deficiency
Mitochondrial trifunctional protein deficiency: A rare cause of adult-onset rhabdomyolysis.
Protein Deficiency
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.
Protein Deficiency
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
Protein Deficiency
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.
Protein Deficiency
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
Protein Deficiency
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.
Protein Deficiency
Morphological investigation of two sibling autopsy cases of mitochondrial trifunctional protein deficiency.
Protein Deficiency
Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.
Protein Deficiency
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Protein Deficiency
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect.
Protein Deficiency
Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots-A Systematic Review of Test Accuracy.
Protein Deficiency
Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.
Protein Deficiency
Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Protein Deficiency
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Protein Deficiency
Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Protein Deficiency
Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub "Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation".
Protein Deficiency
Round Table Discussion.
Protein Deficiency
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Protein Deficiency
Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.
Protein Deficiency
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Protein Deficiency
TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes.
Protein Deficiency
The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement.
Protein Deficiency
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Protein Deficiency
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
Protein Deficiency
Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health.
Protein Deficiency
[Mitochondrial trifunctional protein deficiency]
Pulmonary Disease, Chronic Obstructive
TNF-{alpha} impairs regulation of muscle oxidative phenotype: implications for cachexia?
Respiratory Distress Syndrome
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
Respiratory Distress Syndrome
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.
Respiratory Insufficiency
Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.
Retinal Dystrophies
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.
Retinitis Pigmentosa
Hypoparathyroidism in mitochondrial trifunctional protein deficiency.
Retinitis Pigmentosa
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.
Retinitis Pigmentosa
MULTIMODAL IMAGING AND ELECTRORETINOGRAPHY IN LONG-CHAIN 3-HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY.
Retinitis Pigmentosa
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Retinitis Pigmentosa
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.
Retinitis Pigmentosa
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.
Retinoschisis
RETINAL PHENOTYPE IN A CASE OF LCHAD/TFP DEFICIENCY WITH LATE-STAGE DIAGNOSIS.
Reye Syndrome
Improved detection of the G1528C mutation in LCHAD deficiency.
Reye Syndrome
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
Rhabdomyolysis
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Rhabdomyolysis
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Rhabdomyolysis
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Rhabdomyolysis
Disturbance of mitochondrial functions provoked by the major long-chain 3-hydroxylated fatty acids accumulating in MTP and LCHAD deficiencies in skeletal muscle.
Rhabdomyolysis
Fatty acid oxidation disorders: outcome and long-term prognosis.
Rhabdomyolysis
Increased anaerobic glycolysis in mitochondrial trifunctional protein-deficient brain.
Rhabdomyolysis
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.
Rhabdomyolysis
Long-chain fatty acid oxidation during early human development.
Rhabdomyolysis
Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
Rhabdomyolysis
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.
Rhabdomyolysis
Mitochondrial trifunctional protein deficiency: A rare cause of adult-onset rhabdomyolysis.
Rhabdomyolysis
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
Rhabdomyolysis
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Rhabdomyolysis
The etiology of rhabdomyolysis: an interaction between genetic susceptibilities and external triggers.
Rhabdomyolysis
[Hypoglycaemia without ketosis. A case report]
Stroke
Stimulation of astrocyte fatty acid oxidation by thyroid hormone is protective against ischemic stroke-induced damage.
Thalassemia
Prepregnancy testing for single-gene disorders by polar body analysis.
Tyrosinemias
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Tyrosinemias
[Acute liver failure related to inherited metabolic diseases in young children].
very-long-chain acyl-coa dehydrogenase deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
very-long-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
very-long-chain acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Wolman Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
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1.1.1.211 long-chain-3-hydroxyacyl-CoA dehydrogenase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
