Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103–121del and 1460T > A of the <i>ALDH5A1</i> Gene-Reference-Cited by-同舟云学术

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Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103–121del and 1460T > A of the ALDH5A1 Gene

Published:2002 Issue:1 Volume:53 Page:42-44
ISSN:0001-5652
Container-title:Human Heredity
language:en
Short-container-title:Hum Hered

Author:

Aoshima Tsutomu,Kajita Mitsuharu,Sekido Yoshitaka,Ishiguro Yoshiko,Tsuge Ikuya,Kimura Masahiko,Yamaguchi Seiji,Watanabe K.Kazuyoshi,Shimokata Kaoru,Niwa Toshimitsu

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency;Molecular Genetics and Metabolism;2024-05

2. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder;Journal of Neurodevelopmental Disorders;2024-04-24

3. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine;International Journal of Molecular Sciences;2022-02-26

4. Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency;Journal of Child Neurology;2021-11

5. Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1;International Journal of Molecular Sciences;2020-11-13

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