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...

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Detalles Bibliográficos
Autores principales: Termsarasab, Pichet, Frucht, Steven J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711040/
https://www.ncbi.nlm.nih.gov/pubmed/26788335
http://dx.doi.org/10.1186/s40734-014-0009-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711040/
https://www.ncbi.nlm.nih.gov/pubmed/26788335
http://dx.doi.org/10.1186/s40734-014-0009-9

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