Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism-Reference-Cited by-同舟云学术

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism

Published:2016-10 Issue: Volume:99 Page:72-84
ISSN:0197-0186
Container-title:Neurochemistry International
language:en
Short-container-title:Neurochemistry International

Author:

Malaspina P.^ORCID,Roullet J.-B.,Pearl P.L.,Ainslie G.R.,Vogel K.R.,Gibson K.M.

Funder

NIH

Publisher

Elsevier BV

Subject

Cell Biology,Cellular and Molecular Neuroscience

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4. mTOR, autophagy, aminoacidopathies, and human genetic disorders;Ainslie,2016

5. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency;Akaboshi;Hum. Mutat.,2003

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