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PMM2
Annual Report DDUV 2009
PMM2 Gene Phosphomannomutase 2
'Improvement of Dolichol-Linked Oligosaccharide Biosynthesis by The
Supplementary Table S4. FGA Co-Expressed Gene List in LUAD
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagno
Congenital Disorders of Glycosylation Type Ia)
Downloaded from the App Store and Nucleobase, Nucleotide and Nucleic Acid Metabolism 7 Google Play
Pseudouridylation Defect Due to DKC1 and NOP10 Mutations Causes Nephrotic Syndrome with Cataracts, Hearing Impairment, and Enterocolitis
Diseases Catalogue
Whole-Genome Comparison Between the Type Strain of Halobacterium Salinarum (DSM 3754T) and the Laboratory Strains R1 and NRC-1
SSIEM Classification of Inborn Errors of Metabolism 2011
Characterisation of the Potential of Probiotics Or Their Extracts As Therapy for Skin
And Type the TITLE of YOUR WORK in All Caps
Supplemental Figures 04 12 2017
Repurposing the Aldose Reductase Inhibitor and Diabetic Neuropathy Drug Epalrestat for the Congenital Disorder of Glycosylation PMM2-CDG Sangeetha Iyer1, Feba S
A Mutant of Phosphomannomutase1 Retains Full Enzymatic Activity, but Is Not Activated by IMP: Possible Implications for the Disease PMM2-CDG
Phophomannomutase2 Mutants in Vitro and Represents [0.9]
PMM2-Congenital Disorder of Glycosylation
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Child Neurology: a Case of PMM2-CDG (CDG 1A) Presenting with Unusual Eye Movements Rohini Coorg and Timothy E
Identification of Four Novel PMM2 Mutations in Congenital Disorders of Glycosylation (CDG) Ia French Patients
Congenital Disorder of Glycosylation Type 1A
Proteomic Landscape of the Human Choroid–Retinal Pigment Epithelial Complex
Towards a Therapy for Phosphomannomutase 2 Deficiency, the Defect in CDG-Ia Patients
A Great Catch for Investigating Inborn Errors of Metabolism—Insights Obtained from Zebrafish
Complement Activation in Peritoneal Dialysis–Induced Arteriolopathy
Blueprint Genetics Comprehensive Metabolism Panel
Detailed Mapping of the Phosphomannomutase 2 (PMM2) Gene and Mutation Detection Enable Improved Analysis for Scandinavian CDG Type I Families
Nrf2 Activation Attenuates Genetic Endoplasmic Reticulum Stress Induced by a Mutation in the Phosphomannomutase 2 Gene in Zebrafish
TABLE S2 Ipi GN DESCRIPTION Mean H/L # Pep CLDN1
Generated by SRI International Pathway Tools Version 25.0 on Mon
Responsive Nuclear Proteins in Collecting Duct Cells
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
Quantitative 1H NMR Metabolomics Reveal Distinct Metabolic Adaptations in Human Macrophages Following Differential Activation
Functional Significance of PMM2 Mutations in Mildly Affected Patients
Physician's Guide to the Diagnosis, Treatment, and Follow-Up Of
Carbohydrate-Deficient Glycoprotein Syndrome Type 1A: Expression and Characterisation of Wild Type and Mutant PMM2 in E. Coli
Limitations of Galactose Therapy in Phosphoglucomutase 1 Deficiency
Mutations in PMM2 That Cause Congenital Disorders of Glycosylation, Type Ia (CDG-Ia)
Novel PMM2 Missense Mutation in a Chinese Family with Non-Syndromic Premature Ovarian Insufficiency
Regulation of Dolichol-Linked Glycosylation
Dietary Mannose Supplementation in Phosphomannomutase 2 Deficiency (PMM2-CDG) Roman Taday, Marianne Grüneberg, Ingrid Duchesne, Janine Reunert and Thorsten Marquardt*
Generated by SRI International Pathway Tools Version 24.0 on Thu
Molecular Genetics and Metabolism 117 (2016) 221–298
International Clinical Guidelines for the Management of Phosphomannomutase 2-Congenital Disorders of Glycosylation: Diagnosis, Treatment and Follow Up