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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-...
Autores principales: | Tai, Hongfei, Zhang, Zaiqiang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
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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