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PMID: 15235028 Published · ppublish English Letter Multicenter Study Research Support, Non-U.S. Gov't

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).

Journal of medical genetics ·Vol. 41 ·No. 7 ·2004-07-00 ·Pages 550-6

Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G

Abstract

暂无摘要

MeSH Terms

Carbohydrate Metabolism, Inborn Errors/diagnosis,enzymology,genetics,mortality DNA Mutational Analysis/methods Female Glucosyltransferases/deficiency,genetics Glycosylation Humans Infant Infant, Newborn Male Mutation/genetics,physiology Mutation, Missense/genetics,physiology RNA Splice Sites/genetics,physiology

Chemicals

RNA Splice Sites ALG8 protein, human Glucosyltransferases

Authors & Affiliations

12 authors, click to expand affiliations / ORCID

Schollen E

Frank C G

Keldermans L

Reyntjens R

Grubenmann C E

Clayton P T

Winchester B G

Smeitink J

Wevers R A

Aebi M

Hennet T

Matthijs G

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.2003.016923

Published

2004-07-00

Pages

550-6

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1735831

Subset

Databases

OMIM

608104

External Links

PubMed source DOI: 10.1136/jmg.2003.016923 PMC Full Text View journal details

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Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).

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