A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

BACKGROUND: Deficiency of 4-aminobutyrate aminotransferase (GABA-T) is a rare disorder of GABA catabolism, with only a single sibship reported. We report on a third case, a Japanese female infant with severe psychomotor retardation and recurrent episodic lethargy with intractable seizures, with the...

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Dades bibliogràfiques
Autors principals: Tsuji, Megumi, Aida, Noriko, Obata, Takayuki, Tomiyasu, Moyoko, Furuya, Noritaka, Kurosawa, Kenji, Errami, Abdellatif, Gibson, K. Michael, Salomons, Gajja S., Jakobs, Cornelis, Osaka, Hitoshi
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2010
Matèries:
Rapid Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2828554/
https://ncbi.nlm.nih.gov/pubmed/20052547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-009-9022-9
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