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中链酰基辅酶A脱氢酶缺乏症新生儿筛查及随访研究

OBJECTIVE: To investigate the epidemiological characteristics, phenotype, genotype, and prognosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in the Chinese population. METHODS: A retrospective analysis was performed for the clinical data of the neonates who underwent screening with hi...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Zhongguo Dang Dai Er Ke Za Zhi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 中国当代儿科杂志编辑部 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7390178/
https://ncbi.nlm.nih.gov/pubmed/30675864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2019.01.010
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