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Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

Clinical disorders known to affect inherited gamma-amino butyric acid (GABA) metabolism are autosomal recessively inherited succinic semialdehyde dehydrogenase and GABA-transaminase deficiency. The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes intellectual disabili...

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Dades bibliogràfiques
Publicat a:J Pediatr Epilepsy
Autors principals: Parviz, Mahsa, Vogel, Kara, Gibson, K. Michael, Pearl, Phillip L.
Format: Artigo
Idioma:Inglês
Publicat: 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4256671/
https://ncbi.nlm.nih.gov/pubmed/25485164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PEP-14097
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