Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review

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作者：
Yingxuan Li
Miaomiao Wang
Zhaoyang Huang
Jing Ye
Yuping Wang
机构：
[1] Capital Medical University,Department of Neurology, Xuanwu Hospital
[2] The Beijing Key Laboratory of Neuromodulation,undefined
来源：
BMC Medical Genomics | / 15卷
关键词：
Adult-onset propionic acidemia; Neuropsychiatric symptoms; gene; Compound heterozygous mutation; Case report;
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