Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

BACKGROUND: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well as increased concentrations of 2-hy...

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Foilsithe in:BMC Med Genet
Main Authors: Peng, Wei, Ma, Xiu-Wei, Yang, Xiao, Zhang, Wan-Qiao, Yan, Lei, Wang, Yong-Xia, Liu, Xin, Wang, Yan, Feng, Zhi-Chun
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2018
Ábhair:
Case Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6137868/
https://ncbi.nlm.nih.gov/pubmed/30217188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0675-9
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