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Carbohydrate-deficient glycoprotein syndromes.

Carbohydrate-deficient glycoprotein syndromes.

http://www.wikidata.org/entity/Q33843351

about

Genetic networks in the mouse retina: growth associated protein 43 and phosphatase tensin homolog network.UroPathogenic Escherichia coli (UPEC) Infections: Virulence Factors, Bladder Responses, Antibiotic, and Non-antibiotic Antimicrobial Strategies.

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P2860

Carbohydrate-deficient glycoprotein syndromes.

http://www.wikidata.org/entity/Q33843351

description

2000 nî lūn-bûn

@nan

2000 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի մարտին հրատարակված գիտական հոդված

@hy

2000年の論文

@ja

2000年論文

@yue

2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

Carbohydrate-deficient glycoprotein syndromes.

@ast

Carbohydrate-deficient glycoprotein syndromes.

@en

type

label

Carbohydrate-deficient glycoprotein syndromes.

@ast

Carbohydrate-deficient glycoprotein syndromes.

@en

prefLabel

Carbohydrate-deficient glycoprotein syndromes.

@ast

Carbohydrate-deficient glycoprotein syndromes.

@en

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Postgraduate Medical Journal

P1476

Carbohydrate-deficient glycoprotein syndromes.

@en

P2093

Gordon N

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

P2860

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

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

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Carbohydrate deficient glycoprotein (CDG) syndrome type I

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

Disialotransferrin developmental deficiency syndrome

P304

145-149

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scholarly article

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10.1136/PMJ.76.893.145

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893

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76

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2000-03-01T00:00:00Z

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245967531

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10684323

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1741531

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