How to find and diagnose a CDG due to defective N-glycosylation.

Journal of inherited metabolic disease ·Vol. 34 ·No. 4 ·2011-08-00 ·Pages 849-52

Lefeber DJ, Morava E, Jaeken J

Abstract

暂无摘要

MeSH Terms

Carbohydrate Sequence Congenital Disorders of Glycosylation/diagnosis,etiology,genetics Glycosylation Humans Mass Screening/methods Models, Biological Protein Processing, Post-Translational/genetics

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Lefeber Dirk J

Morava Eva

Jaeken Jaak

References (14)

14 references, click to expand

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The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.
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Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
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Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.
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Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse.
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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
Biochim Biophys Acta. 2011 Jun;1812(6):691-8 PMID: 21362473
Congenital disorders of glycosylation.
Ann N Y Acad Sci. 2010 Dec;1214:190-8 PMID: 21175687
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
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Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

1573-2665

DOI

10.1007/s10545-011-9370-0

Published

2011-08-00

Epub

2011-00-08

Pages

849-52

Language

English

Region

United States

NLM ID

7910918

PMCID

PMC3137781

Subset

External Links

PubMed source DOI: 10.1007/s10545-011-9370-0 PMC Full Text View journal details

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How to find and diagnose a CDG due to defective N-glycosylation.

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