A carregar...

Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom pres...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Mov Disord
Main Authors: Termsarasab, Pichet, Frucht, Steven J
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4711040/
https://ncbi.nlm.nih.gov/pubmed/26788335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40734-014-0009-9
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!