Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing-Reference-Cited by-同舟云学术

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Published:2013-09 Issue:1-2 Volume:110 Page:78-85
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Jones Melanie A.,Rhodenizer Devin,da Silva Cristina,Huff Israel J.,Keong Lisa,Bean Lora J.H.,Coffee Bradford,Collins Christin,Tanner Alice K.,He Miao,Hegde Madhuri R.

Funder

AHA

NIH

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

1. Genetic defects in the human glycome;Freeze;Nat. Rev. Genet.,2006

2. Neurology of inherited glycosylation disorders;Freeze;Lancet Neurol.,2012

3. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides;Haeuptle;Hum. Mutat.,2009

4. Screening and diagnosis of congenital disorders of glycosylation;Marklova;Clin. Chim. Acta,2007

5. How to find and diagnose a CDG due to defective N-glycosylation;Lefeber;J. Inherit. Metab. Dis.,2011

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