A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study

BACKGROUND: L-2-hydroxyglutaric aciduria is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene. We describe some novel clinical and molecular characteristics found in a boy with L-2-hydroxyglutaric aciduria. CASE PRESENTATION: We report an 8-...

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Detalles Bibliográficos
Autores principales: Tai, Hongfei, Zhang, Zaiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514984/
https://www.ncbi.nlm.nih.gov/pubmed/26208971
http://dx.doi.org/10.1186/s12883-015-0369-2

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