A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria

BACKGROUND: L-2-hydroxyglutaric aciduria is a metabolic repair deficiency characterized by elevated levels of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. Neurological signs associated with the disease in humans and dogs include seizures, ataxia and dementia. CASE PRESENTATION:...

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Detalles Bibliográficos
Autores principales: Farias, Fabiana HG, Zeng, Rong, Johnson, Gary S, Shelton, G D, Paquette, Dominique, O’Brien, Dennis P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461439/
https://www.ncbi.nlm.nih.gov/pubmed/22834903
http://dx.doi.org/10.1186/1746-6148-8-124

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