MGAT2 deficiency (CDG-IIa): The Life of J.
Author:
Publisher
Elsevier BV
Subject
Molecular Biology,Molecular Medicine
Reference4 articles.
1. Carbohydrate deficient glycoprotein syndrome type II: deficiency in Golgi localised N-acetyl-glucosaminyltransferase II;Jaeken;Arch. Dis. Child,1994
2. The skeletal manifestations of the congenital disorders of glycosylation;Coman;Clin. Genet.,2008
3. A new variant of the carbohydrate deficient glycoproteins syndrome;Ramaekers;J. Inherit. Metab. Dis.,1991
4. Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine: α-d-mannoside β-1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa;Wang;Biochim. Biophys. Acta,2002
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1. Immune dysfunction in MGAT2‐CDG : A clinical report and review of the literature;American Journal of Medical Genetics Part A;2020-10-12
2. Immunological aspects of congenital disorders of glycosylation (CDG): a review;Journal of Inherited Metabolic Disease;2016-07-08
3. Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function;Biochemical and Biophysical Research Communications;2014-10
4. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation;Expert Review of Molecular Diagnostics;2014-02-13
5. Congenital Disorders of Protein Glycosylation;Emery and Rimoin's Principles and Practice of Medical Genetics;2013
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