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Acquired Immunodeficiency Syndrome
Meeting the Best Practice for Hearing Aid Verification in Children: Challenges and Future Directions.
adenosylhomocysteinase deficiency
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Aggressive Periodontitis
Development and evaluation of a selective and differential medium for the primary isolation of Peptostreptococcus micros.
Agranulocytosis
Prednimustine, mitoxantrone (PmM) vs cyclophosphamide, vincristine, prednisone (COP) for the treatment of advanced low-grade non-Hodgkin's lymphoma. German Low-Grade Lymphoma Study Group.
Alopecia
Phase I trial of pentamethylmelamine in patients with previously treated malignancies.
alpha-1,6-mannosyl-glycoprotein 2-beta-n-acetylglucosaminyltransferase deficiency
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency.
Arthritis
Partial meniscectomy provides no benefit for symptomatic degenerative medial meniscus posterior root tears.
Astrocytoma
Human central nervous system pharmacology of pentamethylmelamine and its metabolites.
Ataxia
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
Ataxia
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Ataxia
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Blepharophimosis
Genetic disorders in premature ovarian failure.
Brain Diseases
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
Breast Neoplasms
Proteomic analysis of infiltrating ductal carcinoma tissues by coupled 2-D DIGE/MS/MS analysis.
Carcinogenesis
A case of peritoneal malignant mesothelioma following radiation therapy for cervical cancer.
Carcinoma
Huge peritoneal malignant mesothelioma mimicking primary ovarian carcinoma.
Carcinoma
Peritoneal malignant mesothelioma (PMM), and primary peritoneal serous carcinoma (PPSC) and reactive mesothelial hyperplasia (RMH) of the peritoneum. Immunohistochemical and fluorescence in situ hybridisation (FISH) analyses.
Carcinosarcoma
Preclinical toxicology, pharmacokinetics and formulation of N2,N4,N6-trihydroxymethyl-N2,N4,N6-trimethylmelamine (trimelamol), a water-soluble cytotoxic s-triazine which does not require metabolic activation.
Carpal Tunnel Syndrome
Pediatric median mononeuropathies: a clinical and electromyographic study.
Cerebellar Diseases
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Cerebellar Diseases
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Cerebellar Diseases
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Cerebral Infarction
[Cerebral infarction presenting pure motor monoparesis: diagnosis by diffusion-weighted MR imaging]
Chagas Disease
Development and glycoprotein composition of the perimicrovillar membrane in Triatoma (Meccus) pallidipennis (Hemiptera: Reduviidae).
Chagas Disease
Trypanosoma cruzi Phosphomannomutase and Guanosine Diphosphate-Mannose Pyrophosphorylase Ligandability Assessment.
Chronic Periodontitis
Development and evaluation of a selective and differential medium for the primary isolation of Peptostreptococcus micros.
Congenital Disorders of Glycosylation
A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity.
Congenital Disorders of Glycosylation
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Congenital Disorders of Glycosylation
Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.
Congenital Disorders of Glycosylation
Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib.
Congenital Disorders of Glycosylation
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Congenital Disorders of Glycosylation
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
Congenital Disorders of Glycosylation
Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America.
Congenital Disorders of Glycosylation
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
Congenital Disorders of Glycosylation
Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.
Congenital Disorders of Glycosylation
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
Congenital Disorders of Glycosylation
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.
Congenital Disorders of Glycosylation
Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53.
Congenital Disorders of Glycosylation
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.
Congenital Disorders of Glycosylation
Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells.
Congenital Disorders of Glycosylation
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.
Congenital Disorders of Glycosylation
Corrigendum to: 'Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity'.
Congenital Disorders of Glycosylation
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Congenital Disorders of Glycosylation
Dissecting the transcriptional program of phosphomannomutase 2 deficient cells: B-LCL as a valuable model for congenital disorders of glycosylation studies.
Congenital Disorders of Glycosylation
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
Congenital Disorders of Glycosylation
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts.
Congenital Disorders of Glycosylation
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency.
Congenital Disorders of Glycosylation
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.
Congenital Disorders of Glycosylation
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.
Congenital Disorders of Glycosylation
Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.
Congenital Disorders of Glycosylation
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.
Congenital Disorders of Glycosylation
Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.
Congenital Disorders of Glycosylation
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.
Congenital Disorders of Glycosylation
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Congenital Disorders of Glycosylation
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.
Congenital Disorders of Glycosylation
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
Congenital Disorders of Glycosylation
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
Congenital Disorders of Glycosylation
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.
Congenital Disorders of Glycosylation
Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling.
Congenital Disorders of Glycosylation
Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes.
Congenital Disorders of Glycosylation
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
Congenital Disorders of Glycosylation
Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A new insight into PMM2 mutations in the French population.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A Zebrafish Model Of PMM2-CDG Reveals Altered Neurogenesis And A Substrate-Accumulation Mechanism For N-Linked Glycosylation Deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Analysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphate.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
DFT investigation on the reaction mechanism catalyzed by alpha-phosphomannomutase1 in protonated/deprotonated states.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dissecting the transcriptional program of phosphomannomutase 2 deficient cells: B-LCL as a valuable model for congenital disorders of glycosylation studies.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Evolutionary history and functional diversification of phosphomannomutase genes.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG) : Expression analysis of PMM2-CDG mutations.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
In vitro treatment of congenital disorder of glycosylation type Ia using PLGA nanoparticles loaded with GDP?Man.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Neurological roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
New and potential strategies for the treatment of PMM2-CDG.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia).
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Underdiagnosis of mild congenital disorders of glycosylation type Ia.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
Craniocerebral Trauma
[Pure motor monoparesis of a lower limb due to head injury: a case report].
Cystic Fibrosis
Alginate biosynthetic enzymes in mucoid and nonmucoid Pseudomonas aeruginosa: overproduction of phosphomannose isomerase, phosphomannomutase, and GDP-mannose pyrophosphorylase by overexpression of the phosphomannose isomerase (pmi) gene.
Cysts
Human central nervous system pharmacology of pentamethylmelamine and its metabolites.
Cysts
Pancreatic cystic neoplasm: the role of cyst morphology, cyst fluid analysis, and expectant management.
Dysplastic Nevus Syndrome
Circulating adhesion molecules as prognostic factors for cutaneous melanoma.
Dystonia
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Endometrial Neoplasms
Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.
Epiretinal Membrane
Premacular membranes in tissue culture.
Gastrointestinal Diseases
Helicobacter pylori cag Pathogenicity Island cagL and orf17 Genotypes Predict Risk of Peptic Ulcerations but not Gastric Cancer in Iran.
Genetic Diseases, Inborn
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Glioma
Therapeutic efficacy study of novel 5-FU-loaded PMM 2.1.2-based microspheres on C6 glioma.
Head and Neck Neoplasms
Does pectoralis major flap harvesting induce upper extremity dysfunction?
Hematuria
Primary Malignant Melanoma of the Bladder Treated by Robotic Partial Cystectomy and Immunotherapy.
Hepatoblastoma
Acetaldehyde-induced growth retardation and micro-heterogeneity of the sugar chain in transferrin synthesized by HepG2 cells.
Hydrops Fetalis
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
Hyperalgesia
Blockade of Vascular Endothelial Growth Factor Receptor-1 (Flt-1), Reveals a Novel Analgesic For Osteoarthritis-Induced Joint Pain.
Hyperalgesia
Link N suppresses interleukin-1?-induced biological effects on human osteoarthritic cartilage.
Hyperglycemia
Upregulation of insulin secretion and downregulation of pro-inflammatory cytokines, oxidative stress and hyperglycemia in STZ-nicotinamide-induced type 2 diabetic rats by Pseuduvaria monticola bark extract.
Hypoglycemia
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Infections
Antiserum against perimicrovillar membranes and midgut tissue reduces the development of Trypanosoma cruzi in the insect vector, Rhodnius prolixus.
Infections
How is post-mortem microbiology appraised by pathologists? Results from a practice survey conducted by ESGFOR.
Infections
Microbiology in minimally invasive autopsy: best techniques to detect infection. ESGFOR (ESCMID study group of forensic and post-mortem microbiology) guidelines.
Infections
[Malignant pleural mesothelioma in housewives in the province of Catania]
Infertility
Expanding the Spectrum of PMM2-CDG Phenotype.
Insulinoma
Upregulation of insulin secretion and downregulation of pro-inflammatory cytokines, oxidative stress and hyperglycemia in STZ-nicotinamide-induced type 2 diabetic rats by Pseuduvaria monticola bark extract.
Intellectual Disability
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Kidney Diseases, Cystic
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Latent Infection
Varicella-zoster virus (VZV) ORF17 protein induces RNA cleavage and is critical for replication of VZV at 37 degrees C but not 33 degrees C.
Liver Diseases
Effect of psoas muscle mass after endoscopic therapy for patients with esophageal varices.
Lung Neoplasms
Biotin-targeted Pluronic(®) P123/F127 mixed micelles delivering niclosamide: A repositioning strategy to treat drug-resistant lung cancer cells.
Lymphoma
alpha Interferon maintenance therapy in patients with low-grade non-Hodgkin's lymphomas after cytoreductive chemotherapy with prednimustine and mitoxantrone.
Lymphoma
Prednimustine, mitoxantrone (PmM) vs cyclophosphamide, vincristine, prednisone (COP) for the treatment of advanced low-grade non-Hodgkin's lymphoma. German Low-Grade Lymphoma Study Group.
Lymphoma, Non-Hodgkin
Prednimustine, mitoxantrone (PmM) vs cyclophosphamide, vincristine, prednisone (COP) for the treatment of advanced low-grade non-Hodgkin's lymphoma. German Low-Grade Lymphoma Study Group.
Lymphoma, Non-Hodgkin
Treatment of low-grade non-Hodgkin's lymphoma by cytoreductive chemotherapy with prednimustine/mitoxantrone followed by interferon alpha-2b maintenance: results of a clinical phase II study.
mannose-6-phosphate isomerase deficiency
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Maternal Death
Challenges and opportunities for donors in reducing maternal death and morbidity: lessons from the PMM experience.
Melanoma
CD44 and variants in melanocytic skin neoplasms.
Melanoma
Heterogeneity of T-cell clones infiltrating primary malignant melanomas.
Melanoma
Human central nervous system pharmacology of pentamethylmelamine and its metabolites.
Melanoma
In situ expression of B7 and CD28 receptor families in human malignant melanoma: relevance for T-cell-mediated anti-tumor immunity.
Melanoma
Oncogenic BRAF fusions in mucosal melanomas activate the MAPK pathway and are sensitive to MEK/PI3K inhibition or MEK/CDK4/6 inhibition.
Melanoma
Primary Malignant Melanoma of the Bladder Treated by Robotic Partial Cystectomy and Immunotherapy.
Melanoma
Prognostic factors and incidence of primary mucosal melanoma: a population-based study in France.
Mesothelioma
Chemokines involved in the early inflammatory response and in pro-tumoral activity in asbestos-exposed workers from an Italian coastal area with territorial clusters of pleural malignant mesothelioma.
Mesothelioma
Incidence of pleural mesothelioma in Liguria Region, Italy (1996-2002).
Mesothelioma
Peritoneal malignant mesothelioma (PMM), and primary peritoneal serous carcinoma (PPSC) and reactive mesothelial hyperplasia (RMH) of the peritoneum. Immunohistochemical and fluorescence in situ hybridisation (FISH) analyses.
Mesothelioma, Malignant
Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.
Migraine Disorders
Cycling Through Migraine Preventive Treatments: Implications for All-Cause Total Direct Costs and Disease-Specific Costs.
Migraine Disorders
Diagnosis and treatment of the menstrual migraine patient.
Migraine Disorders
Is iron deficiency anemia related to menstrual migraine? Post hoc analysis of an observational study evaluating clinical characteristics of patients with menstrual migraine.
Migraine Disorders
Rizatriptan efficacy in ICHD-II pure menstrual migraine and menstrually related migraine.
Migraine Disorders
Self-reported menstrual migraine in the general population.
Migraine Disorders
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Migraine with Aura
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Mitochondrial Diseases
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.
Mitochondrial Myopathies
Development of a Patient-Reported Outcome Questionnaire to Evaluate Primary Mitochondrial Myopathy Symptoms: The Primary Mitochondrial Myopathy Symptom Assessment.
Mitochondrial Myopathies
Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.
Movement Disorders
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Mucinoses
Pediatric median mononeuropathies: a clinical and electromyographic study.
Multiple Myeloma
Reconstructing the human hematopoietic niche in immunodeficient mice: opportunities for studying primary multiple myeloma.
Muscular Dystrophy, Oculopharyngeal
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
Neoplasm Metastasis
Arm lymphedema in patients treated conservatively for breast cancer: relationship to patient age and axillary node dissection technique.
Neoplasm Metastasis
CD44 and variants in melanocytic skin neoplasms.
Neoplasm Metastasis
Heterogeneity of T-cell clones infiltrating primary malignant melanomas.
Neoplasm Metastasis
Update on primary head and neck mucosal melanoma.
Neoplasms
A case of peritoneal malignant mesothelioma following radiation therapy for cervical cancer.
Neoplasms
A clinicopathological study of pulmonary mucormycosis in cancer patients: extensive angioinvasion but limited inflammatory response.
Neoplasms
A sensitive and specific assay for pentamethylmelamine in plasma: applicability to clinical studies.
Neoplasms
Biochemical studies on the ability of pentamethylmelamine to interact in vivo with DNA and proteins in a sensitive murine ovarian reticular cell sarcoma.
Neoplasms
CD44 and variants in melanocytic skin neoplasms.
Neoplasms
Cost comparison among punctate midline myelotomy, intrathecal pain pump, and spinal cord epidural stimulator.
Neoplasms
Expression of matrix metalloproteinases, tissue inhibitors of metalloproteinase, collagens, and Ki67 antigen in pleural malignant mesothelioma: an immunohistochemical and electron microscopic study.
Neoplasms
Fine-Tuning of Charge-Conversion Polymer Structure for Efficient Endosomal Escape of siRNA-Loaded Calcium Phosphate Hybrid Micelles.
Neoplasms
Hexamethylmelamine and pentamethylmelamine tissue distribution in M5076/73A ovarian cancer-bearing mice.
Neoplasms
High CD44 surface expression on primary tumours of malignant melanoma correlates with increased metastatic risk and reduced survival.
Neoplasms
Huge peritoneal malignant mesothelioma mimicking primary ovarian carcinoma.
Neoplasms
Human central nervous system pharmacology of pentamethylmelamine and its metabolites.
Neoplasms
In situ expression of B7 and CD28 receptor families in human malignant melanoma: relevance for T-cell-mediated anti-tumor immunity.
Neoplasms
Malignant mesothelioma of the pericardium: case reports and immunohistochemical studies including Ki-67 expression.
Neoplasms
Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.
Neoplasms
Pentamethylmelamine: review of an aqueous analog of hexamethylmelamine.
Neoplasms
Phase I trial of pentamethylmelamine: a clinical and pharmacologic study.
Neoplasms
Potentiation of cytostatic but not cytolytic activity of murine macrophages after running stress.
Neoplasms
Prognostic significance of a positive microscopic margin in high-risk extremity soft tissue sarcoma: implications for management.
Neoplasms
Proteomic analysis of infiltrating ductal carcinoma tissues by coupled 2-D DIGE/MS/MS analysis.
Neoplasms
Punctate midline myelotomy for the relief of visceral cancer pain.
Neoplasms
Statistical approaches using longitudinal biomarkers for disease early detection: A comparison of methodologies.
Neoplasms
[Application of pectoralis major myocutaneous flap in the reconstruction of tongue: an analysis of 86 cases]
Neoplasms
[Study on the anti-tumor effect of paclitaxel mixed micelle by using in vivo optical imaging technique].
Neurologic Manifestations
Pure motor monoparesis: solitary cysticercus granuloma.
Nevus
CD44 and variants in melanocytic skin neoplasms.
Nevus
Clinicopathologic, misdiagnosis and survival differences between clinically amelanotic melanomas and pigmented melanomas.
Ophthalmoplegia, Chronic Progressive External
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
Osteoma, Osteoid
Pediatric median mononeuropathies: a clinical and electromyographic study.
Osteophyte
Injected human umbilical cord-derived mesenchymal stromal cells do not appear to elicit an inflammatory response in a murine model of osteoarthritis.
Ovarian Neoplasms
Statistical approaches using longitudinal biomarkers for disease early detection: A comparison of methodologies.
Overweight
Association of Body Composition with Curve Severity in Children and Adolescents with Idiopathic Scoliosis (IS).
Overweight
Effect of sarcopenic overweight on lung transplant based on 3D reconstructed psoas muscle mass.
Pancreatic Neoplasms
Punctate midline myelotomy for intractable visceral pain caused by hepatobiliary or pancreatic cancer.
Parasitemia
Evaluation of the in vitro and in vivo antiplasmodial effect of water treated with Photonic Multiphase Modulators (PMM) designed with Advanced Physics System Engineering (APSE) and BioPhoton-X technology.
Periodontal Pocket
Development and evaluation of a selective and differential medium for the primary isolation of Peptostreptococcus micros.
Phenylketonurias
[Novel treatments in neurometabolic diseases: the importance of chaperones].
phosphomannomutase deficiency
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
phosphomannomutase deficiency
Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.
phosphomannomutase deficiency
Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.
phosphomannomutase deficiency
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
phosphomannomutase deficiency
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
phosphomannomutase deficiency
Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America.
phosphomannomutase deficiency
Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.
phosphomannomutase deficiency
Carbohydrate-deficient glycoprotein syndrome.
phosphomannomutase deficiency
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
phosphomannomutase deficiency
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
phosphomannomutase deficiency
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
phosphomannomutase deficiency
Clinical Utility Gene Card for: Phosphomannomutase 2 deficiency.
phosphomannomutase deficiency
Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells.
phosphomannomutase deficiency
Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
phosphomannomutase deficiency
Congenital disorders of glycosylation.
phosphomannomutase deficiency
Congenital disorders of glycosylation: a review.
phosphomannomutase deficiency
Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.
phosphomannomutase deficiency
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
phosphomannomutase deficiency
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).
phosphomannomutase deficiency
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).
phosphomannomutase deficiency
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
phosphomannomutase deficiency
Expanding the Spectrum of PMM2-CDG Phenotype.
phosphomannomutase deficiency
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG) : Expression analysis of PMM2-CDG mutations.
phosphomannomutase deficiency
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
phosphomannomutase deficiency
Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).
phosphomannomutase deficiency
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.
phosphomannomutase deficiency
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency.
phosphomannomutase deficiency
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.
phosphomannomutase deficiency
Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.
phosphomannomutase deficiency
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
phosphomannomutase deficiency
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
phosphomannomutase deficiency
Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.
phosphomannomutase deficiency
Mannose supplementation in PMM2-CDG.
phosphomannomutase deficiency
Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia).
phosphomannomutase deficiency
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
phosphomannomutase deficiency
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
phosphomannomutase deficiency
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
phosphomannomutase deficiency
Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency.
phosphomannomutase deficiency
New and potential strategies for the treatment of PMM2-CDG.
phosphomannomutase deficiency
Ophthalmic findings in an infant with phosphomannomutase deficiency.
phosphomannomutase deficiency
Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years.
phosphomannomutase deficiency
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency.
phosphomannomutase deficiency
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
phosphomannomutase deficiency
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
phosphomannomutase deficiency
Phosphomannomutase deficiency and normal pubertal development.
phosphomannomutase deficiency
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
phosphomannomutase deficiency
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
phosphomannomutase deficiency
Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
phosphomannomutase deficiency
PMM2-CDG caused by uniparental disomy: Case report and literature review.
phosphomannomutase deficiency
Proteostasis regulators as potential rescuers of PMM2 activity.
phosphomannomutase deficiency
Renal involvement in PMM2-CDG, a mini-review.
phosphomannomutase deficiency
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.
phosphomannomutase deficiency
Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.
phosphomannomutase deficiency
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
phosphomannomutase deficiency
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
phosphomannomutase deficiency
Synthesis of lipopolysaccharide O side chains by Pseudomonas aeruginosa PAO1 requires the enzyme phosphomannomutase.
phosphomannomutase deficiency
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
phosphomannomutase deficiency
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
phosphomannomutase deficiency
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.
phosphomannomutase deficiency
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
phosphomannomutase deficiency
[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome]
Plasmacytoma
Preclinical toxicology, pharmacokinetics and formulation of N2,N4,N6-trihydroxymethyl-N2,N4,N6-trimethylmelamine (trimelamol), a water-soluble cytotoxic s-triazine which does not require metabolic activation.
Polycystic Kidney Diseases
Anterior Ischemic Optic Neuropathy in a Child Receiving Chronic Hemodialysis.
Polycystic Kidney Diseases
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Polycystic Kidney Diseases
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Primary Ovarian Insufficiency
Expanding the Spectrum of PMM2-CDG Phenotype.
Protein-Losing Enteropathies
Secondary sarcopenia assessed by computed tomography can predict hospitalization for heart failure in adults with Fontan circulation.
Retinal Detachment
Premacular membrane formation after scleral buckling for primary rhegmatogenous retinal detachment: prospective study and pathophysiological insights.
Retinal Perforations
Pneumatic retinopexy using only air.
Sarcoma
Potentiation of cytostatic but not cytolytic activity of murine macrophages after running stress.
Sarcopenia
Secondary sarcopenia assessed by computed tomography can predict hospitalization for heart failure in adults with Fontan circulation.
Shoulder Pain
Association of Pectoralis Minor Muscle Extensibility, Shoulder Mobility, and Duration of Manual Wheelchair Use.
Sinusitis
Fibrin binding, fibrinolytic and fibrinogenolytic activity of plasminogen activator derived from the paranasal mucous membrane of humans.
Sleep Initiation and Maintenance Disorders
Enzymolysis peptides from Mauremys mutica plastron improve the disorder of neurotransmitter system and facilitate sleep-promoting in the PCPA-induced insomnia mice.
Sleep Wake Disorders
Persistent mirror movement associated with disabling pain and sleep arousal disorder: a case report.
Spinal Cord Diseases
Punctate Midline Myelotomy: A Historical Overview and Case Series with Detailed Efficacy and Side Effect Profiles.
Spinal Cord Diseases
Serum phosphorylated neurofilament heavy chain as a diagnostic biomarker for progressive myelomalacia in dogs with thoracolumbar intervertebral disc herniation.
Stomach Neoplasms
Helicobacter pylori cag Pathogenicity Island cagL and orf17 Genotypes Predict Risk of Peptic Ulcerations but not Gastric Cancer in Iran.
Stomach Neoplasms
The punctate midline myelotomy concept for visceral cancer pain control--case report and review of the literature.
Stroke
[The level of middle mass molecules and lipid peroxidation in blood of patients with different forms of stroke]
Teratoma
A New Model to Predict Benign Histology in Residual Retroperitoneal Masses After Chemotherapy in Nonseminoma.
Thoracic Outlet Syndrome
Ultrasonography-guided osteopathic manipulative treatment for a patient with thoracic outlet syndrome.
Thrombocytopenia
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
Tongue Neoplasms
[Application of pectoralis major myocutaneous flap in the reconstruction of tongue: an analysis of 86 cases]
Tuberculosis
Overexpression of Mycobacterium tuberculosis manB, a phosphomannomutase that increases phosphatidylinositol mannoside biosynthesis in Mycobacterium smegmatis and mycobacterial association with human macrophages.
Urinary Bladder Neoplasms
Primary Malignant Melanoma of the Bladder Treated by Robotic Partial Cystectomy and Immunotherapy.
Varicose Ulcer
Protease-modulating matrix treatments for healing venous leg ulcers.
Vascular Ring
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.
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5.4.2.8 phosphomannomutase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
