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Inherited Disorders of GABA Metabolism and Advances in ALDH5A1 Mutation Identification

BACKGROUND AND OBJECTIVES: Inherited disorders of GABA metabolism include SSADH and GABA-transaminase deficiencies. The clinical features, pathophysiology, diagnosis, and management of both are discussed, including an updated list of ALDH5A1 mutations causing SSADH deficiency. METHODS: Our SSADH pat...

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Detalhes bibliográficos
Publicado no:Dev Med Child Neurol
Main Authors: Pearl, Phillip L., Parviz, Mahsa, Vogel, Kara, Schreiber, John, Theodore, William H., Gibson, K. Michael
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4485983/
https://ncbi.nlm.nih.gov/pubmed/25558043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dmcn.12668
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