A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria

L-2-hydroxyglutaric aciduria (L2HGA), which is a rare autosomal recessive metabolic disorder caused by mutations in the encoding L2HGDH gene. Neurological symptoms are the main predominant clinical signs. The distinctive feature is the specific multifocal lesion of the white matter detected on magne...

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Detalles Bibliográficos
Autores principales: Olgac, A, Tekin, Orgun L, Ezgü, FS, Biberoǧlu, G, Tümer, L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956639/
https://www.ncbi.nlm.nih.gov/pubmed/31942424
http://dx.doi.org/10.2478/bjmg-2019-0015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956639/
https://www.ncbi.nlm.nih.gov/pubmed/31942424
http://dx.doi.org/10.2478/bjmg-2019-0015

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