Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia - Wikidata - awgldk - TriplyDB

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

http://www.wikidata.org/entity/Q28211217

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Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.Glycine cleavage system in neurogenic regions.Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.

P2860

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P2860

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

http://www.wikidata.org/entity/Q28211217

description

2002 nî lūn-bûn

@nan

2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2002年の論文

@ja

2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

@zh-tw

2002年论文

@wuu

name

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@ast

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@en

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@nl

type

label

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@ast

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@en

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@nl

prefLabel

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@ast

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@en

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@nl

P1433

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P1433

Annals of Neurology

P1476

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia

@en

P2093

Akiko Ichinohe

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

György Fekete

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

Jim Filiano

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

Kanako Kojima

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

Rozalia Kalmanchey

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

Shigeo Kure

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

Suzan Z Berg

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

Tatsuro Izumi

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

Tomoki Maeda

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

Yoichi Matsubara

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

P2860

Structure and chromosomal localization of the aminomethyltransferase gene (AMT)

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia

Hyperglycinemia: a defect in glycine cleavage reaction

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts.

P304

643-6

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P31

scholarly article

P356

10.1002/ANA.10367

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P407

P433

5

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P478

52

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P577

2002-11-01T00:00:00Z

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P698

12402263

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