Search Result "Congenital disorders of glycosylation"


Congenital Disorders of Glycosylation (CDG): Update and Perspectives

Journal: Current Pediatric Reviews
Volume: 2 Issue: 4 Year: 2006 Page: 323-330
Author(s): Renate Zeevaert, Els Schollen, Hubert Carchon, Gert Matthijs, Jaak Jaeken

Congenital Disorders of Glycosylation: CDG-I, CDG-II, and Beyond

Journal: Current Molecular Medicine
Volume: 7 Issue: 4 Year: 2007 Page: 389-396
Author(s): Hudson H. Freeze

Case Report

Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 21 Issue: 12 Year: 2021 Page: 2296-2299
Author(s): Sedigheh Madani,Fatemeh Sayarifard,Parisa Tajdini,Reihaneh Mohsenipour,Hamid Reza Khoram khorshid,Nima Rezaei

Congenital Muscular Dystrophies Involving the O-Mannose Pathway

Journal: Current Molecular Medicine
Volume: 7 Issue: 4 Year: 2007 Page: 417-425
Author(s): Paul T. Martin

Altered Glycosylation of Proteins in Cancer: What Is the Potential for New Anti-Tumour Strategies

Journal: Anti-Cancer Agents in Medicinal Chemistry
Volume: 8 Issue: 1 Year: 2008 Page: 2-21
Author(s): S. A. Brooks, T. M. Carter, L. Royle, D. J. Harvey, S. A. Fry, C. Kinch, R. A. Dwek, P. M. Rudd

Functions of Fukutin, a Gene Responsible for Fukuyama Type Congenital Muscular Dystrophy, in Neuromuscular System and Other Somatic Organs

Journal: Central Nervous System Agents in Medicinal Chemistry
Volume: 10 Issue: 2 Year: 2010 Page: 169-179
Author(s): Tomoko Yamamoto, Noriyuki Shibata, Yoshiaki Saito, Makiko Osawa, Makio Kobayashi

Analysis of Glycosylation and Other Post-Translational Modifications by Mass Spectrometry

Journal: Current Analytical Chemistry
Volume: 5 Issue: 2 Year: 2009 Page: 144-165
Author(s): Willy Morelle

Processing of Cholinesterase-like α/β-Hydrolase Fold Proteins: Alterations Associated with Congenital Disorders

Journal: Protein & Peptide Letters
Volume: 19 Issue: 2 Year: 2012 Page: 173-179
Author(s): Antonella De Jaco, Davide Comoletti, Noga Dubi, Shelley Camp, Palmer Taylor

Review Article

Congenital Solitary Functioning Kidney: A Review

Journal: Current Medicinal Chemistry
Volume: 30 Issue: 2 Year: 2023 Page: 203-219
Author(s): Eduarda Almeida Wakabayashi,Alexandre Negrão Pantaleão,Renata Araújo Avendanha,Felipe Baptista Brunheroto

Case Report

A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency(DOLK-CDG)

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 235-241
Author(s):

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