Serial Magnetic Resonance Imaging and (1)H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, and hyperreflexia. The disease is caused by mutation in the 4-aminobutyrate aminotr...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:JIMD Rep
Main Authors: Ichikawa, Kazushi, Tsuji, Megumi, Tsuyusaki, Yu, Tomiyasu, Moyoko, Aida, Noriko, Goto, Tomohide
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2018
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323023/
https://ncbi.nlm.nih.gov/pubmed/29478219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_95
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares