Home LiteratureArticle Details

PMID: 25649379 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

European journal of human genetics : EJHG ·Vol. 23 ·No. 10 ·2015-10-00

Jaeken J, Lefeber D, Matthijs G

Abstract

暂无摘要

MeSH Terms

Congenital Disorders of Glycosylation/genetics Glycosylation Humans Mannosyltransferases/genetics Mutation/genetics

Chemicals

Mannosyltransferases chitobiosyldiphosphodolichol beta-mannosyltransferase

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Jaeken Jaak

Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.

Lefeber Dirk

Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboudumc, Nijmegen, The Netherlands.

Matthijs Gert

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

References (14)

14 references, click to expand

Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.
J Pediatr. 2000 May;136(5):691-5 PMID: 10802506
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
Hum Mol Genet. 2004 Mar 1;13(5):535-42 PMID: 14709599
How to find and diagnose a CDG due to defective N-glycosylation.
J Inherit Metab Dis. 2011 Aug;34(4):849-52 PMID: 21739167
Congenital disorder of glycosylation: a case presentation.
Adv Neonatal Care. 2012 Apr;12(2):96-100 PMID: 22469962
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Pediatrics. 2012 Oct;130(4):e1034-9 PMID: 22966035
Prenatal diagnosis in CDG1 families: beware of heterogeneity.
Eur J Hum Genet. 1998 Mar-Apr;6(2):99-104 PMID: 9781052
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
J Med Genet. 2010 Nov;47(11):729-35 PMID: 20679665
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
Am J Hum Genet. 2004 Mar;74(3):545-51 PMID: 14973782
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.
Pediatr Res. 1996 Nov;40(5):764-6 PMID: 8910943
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.
J Inherit Metab Dis. 1998 Aug;21(6):681-2 PMID: 9762608
ALG1-CDG: a new case with early fatal outcome.
Gene. 2014 Jan 25;534(2):345-51 PMID: 24157261
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
Glycobiology. 2005 Dec;15(12):1268-76 PMID: 16037488
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.
J Inherit Metab Dis. 2008 Jun;31(3):450-6 PMID: 18500572
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.
Am J Hum Genet. 2004 Mar;74(3):472-81 PMID: 14973778

Article Info

Journal

European journal of human genetics : EJHG

Abbr.

Eur J Hum Genet

ISSN

1476-5438

DOI

10.1038/ejhg.2015.9

Published

2015-10-00

Epub

2015-00-04

Language

English

Region

England

NLM ID

9302235

PMCID

PMC4592101

Subset

External Links

PubMed source DOI: 10.1038/ejhg.2015.9 PMC Full Text View journal details

Analysis Services

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Contact

WeChat Official Account