Progress in understanding 2-hydroxyglutaric acidurias

The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of d-2-hydroxyglutarate (D-2-HG) and/or l-2-hydroxyglutarate (L-2-HG) in body fluids...

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Detalles Bibliográficos
Main Authors: Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
Formato: Artigo
Idioma:Inglês
Publicado: Springer Netherlands 2012
Assuntos:
Metabolic Dissertation
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3388262/
https://ncbi.nlm.nih.gov/pubmed/22391998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9462-5
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