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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tsuji, Megumi, Aida, Noriko, Obata, Takayuki, Tomiyasu, Moyoko, Furuya, Noritaka, Kurosawa, Kenji, Errami, Abdellatif, Gibson, K. Michael, Salomons, Gajja S., Jakobs, Cornelis, Osaka, Hitoshi
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828554/
https://www.ncbi.nlm.nih.gov/pubmed/20052547
http://dx.doi.org/10.1007/s10545-009-9022-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828554/
https://www.ncbi.nlm.nih.gov/pubmed/20052547
http://dx.doi.org/10.1007/s10545-009-9022-9

Ejemplares similares