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线粒体3-羟基3-甲基戊二酰辅酶A合成酶缺乏症1例并文献复习

Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency (HMCSD) is caused by HMGCS2 gene mutation. This paper reports the clinical and genetic features of an infant with this disease. The 8-month-old female infant was admitted to the hospital with diarrhea for 1 week and fever and convulsio...

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Detalhes bibliográficos
Publicado no:Zhongguo Dang Dai Er Ke Za Zhi
Formato: Artigo
Idioma:Inglês
Publicado em: 中国当代儿科杂志编辑部 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389032/
https://ncbi.nlm.nih.gov/pubmed/30477625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.11.010
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