Clinical utility gene card for: Phosphomannose isomerase deficiency.

about

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

P2860

Q39097165-16D318AE-0B35-4F62-909A-65AC700F82A5 Q57839567-0DAEF707-BB51-4A0A-8872-AC95A610DF85

P2860

Clinical utility gene card for: Phosphomannose isomerase deficiency.

Item

http://www.wikidata.org/entity/Q42156017

description

2014 nî lūn-bûn

@nan

2014年の論文

@ja

2014年学术文章

@wuu

2014年学术文章

@zh-cn

2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

@yue

2014年學術文章

@zh

2014年學術文章

@zh-hant

name

Clinical utility gene card for: Phosphomannose isomerase deficiency.

@en

Clinical utility gene card for: Phosphomannose isomerase deficiency.

@nl

type

Item

label

Clinical utility gene card for: Phosphomannose isomerase deficiency.

@en

Clinical utility gene card for: Phosphomannose isomerase deficiency.

@nl

prefLabel

Clinical utility gene card for: Phosphomannose isomerase deficiency.

@en

Clinical utility gene card for: Phosphomannose isomerase deficiency.

@nl

P1476

Clinical utility gene card for: Phosphomannose isomerase deficiency.

@en

P2093

Dirk Lefeber

http://www.w3.org/2001/XMLSchema#string

Jaak Jaeken

http://www.w3.org/2001/XMLSchema#string

P2860

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.

P2888

ejhg.2014.29

P31

scholarly article

P356

10.1038/EJHG.2014.29

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Gert Matthijs

P577

2014-02-26T00:00:00Z

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P5875

260381736

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P6179

1048749355

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P698

24569608

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P932

4135420

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Clinical utility gene card for: Phosphomannose isomerase deficiency.

about

P2860

P2860

Clinical utility gene card for: Phosphomannose isomerase deficiency.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P932