Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations-Reference-Cited by-同舟云学术

Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations

Published:2016-01-01 Issue:4 Volume:44 Page:
ISSN:1619-3997
Container-title:Journal of Perinatal Medicine
language:
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Author:

Liu Ning,Kong Xiang-dong,Kan Quan-cheng,Shi Hui-rong,Wu Qing-hua,Zhuo Zhi-hong,Bai Qiao-ling,Jiang Miao

Abstract

AbstractSuccinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disease in which the degradation of γ-aminobutyric acid (GABA) is impaired. The purpose of this study was to report two novelGenetic analysis ofTwo novel

Publisher

Walter de Gruyter GmbH

Subject

Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpm-2014-0164/pdf

Reference52 articles.

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2. Thirty years beyond discovery – clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism;J Inherit Metab Dis.,2013

3. Thirty years beyond discovery – clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism;J Inherit Metab Dis.,2013

4. Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosome localization;Adv Exp Med Biol.,1997

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