DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.

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DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.

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http://www.wikidata.org/entity/Q41009147

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

DMP1-CDG (CDG1e) with Signific ...... notype and Genotype Expansion.

@en

type

Item

label

DMP1-CDG (CDG1e) with Signific ...... notype and Genotype Expansion.

@en

prefLabel

DMP1-CDG (CDG1e) with Signific ...... notype and Genotype Expansion.

@en

P1476

DMP1-CDG (CDG1e) with Signific ...... notype and Genotype Expansion.

@en

P2093

C Bursle

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

D Brown

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D Coman

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F Connor

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J Cardinal

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S Calvert

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P2860

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Differential diagnosis of food protein-induced enterocolitis syndrome

ALG8-CDG: novel patients and review of the literature.

The ins(ide) and out(side) of dolichyl phosphate biosynthesis and recycling in the endoplasmic reticulum

Clinical manifestations of food protein-induced enterocolitis syndrome.

P304

27-32

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P31

scholarly article

case report

P356

10.1007/8904_2016_7

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P478

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P577

2016-08-02T00:00:00Z

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P698

27481510

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P932

5509558

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