Phenotype of GABA-transaminase deficiency. - Wikidata - awgldk - TriplyDB

Phenotype of GABA-transaminase deficiency.

Phenotype of GABA-transaminase deficiency.

http://www.wikidata.org/entity/Q30234791

about

Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.

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P2860

Phenotype of GABA-transaminase deficiency.

http://www.wikidata.org/entity/Q30234791

description

2017 nî lūn-bûn

@nan

2017 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2017 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

name

Phenotype of GABA-transaminase deficiency.

@ast

Phenotype of GABA-transaminase deficiency.

@en

type

label

Phenotype of GABA-transaminase deficiency.

@ast

Phenotype of GABA-transaminase deficiency.

@en

prefLabel

Phenotype of GABA-transaminase deficiency.

@ast

Phenotype of GABA-transaminase deficiency.

@en

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Phenotype of GABA-transaminase deficiency.

@en

P2093

Claudia A Chiriboga

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

Hitoshi Osaka

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James J Riviello

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

Jennifer Bain

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K Michael Gibson

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Kazushi Ichikawa

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Mary Kay Koenig

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

Megumi Tsuji

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

Penelope E Bonnen

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Ryan Hodgeman

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P2860

Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).

Phenotyping GABA transaminase deficiency: a case description and literature review.

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

The action of gamma-aminobutyric acid on cortical neurones.

Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.

Fast-spike interneurons and feedforward inhibition in awake sensory neocortex.

Defining the role of GABA in cortical development.

Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency.

P304

1919-1924

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scholarly article

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10.1212/WNL.0000000000003936

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20

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88

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Phillip L Pearl

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2017-04-14T00:00:00Z

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