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PMID: 24569608 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Clinical utility gene card for: Phosphomannose isomerase deficiency.

European journal of human genetics : EJHG ·Vol. 22 ·No. 9 ·2014-09-00

Jaeken J, Lefeber D, Matthijs G

Abstract

暂无摘要

MeSH Terms

Congenital Disorders of Glycosylation/diagnosis,genetics Genetic Testing Humans Mannose-6-Phosphate Isomerase/deficiency,genetics Mutation

Chemicals

Mannose-6-Phosphate Isomerase

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Jaeken Jaak

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

Lefeber Dirk

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

Matthijs Gert

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

Supplementary Concepts

Congenital disorder of glycosylation type 1B (Disease)

References (9)

9 references, click to expand

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Hum Mutat. 2000 Sep;16(3):247-52 PMID: 10980531
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.
Mol Genet Metab. 2001 May;73(1):77-85 PMID: 11350186
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
Glycobiology. 2005 Dec;15(12):1268-76 PMID: 16037488
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.
Biochim Biophys Acta. 2009 Sep;1792(9):841-3 PMID: 19101627
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Hum Mutat. 2009 Dec;30(12):1628-41 PMID: 19862844
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
J Med Genet. 2002 Nov;39(11):849-51 PMID: 12414827
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
J Clin Invest. 1998 Apr 1;101(7):1414-20 PMID: 9525984
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
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
Am J Hum Genet. 1998 Jun;62(6):1535-9 PMID: 9585601

Article Info

Journal

European journal of human genetics : EJHG

Abbr.

Eur J Hum Genet

ISSN

1476-5438

DOI

10.1038/ejhg.2014.29

Published

2014-09-00

Epub

2014-00-26

Language

English

Region

England

NLM ID

9302235

PMCID

PMC4135420

Subset

External Links

PubMed source DOI: 10.1038/ejhg.2014.29 PMC Full Text View journal details

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Clinical utility gene card for: Phosphomannose isomerase deficiency.

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