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Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome.

作者信息

Chapel-Crespo Cristel C, Lala Sajel, Prasun Pankaj

机构信息

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.

出版信息

Pediatr Neurol. 2017 Oct;75:101-102. doi: 10.1016/j.pediatrneurol.2017.05.002. Epub 2017 May 8.

DOI:10.1016/j.pediatrneurol.2017.05.002
PMID:28784285
Abstract
摘要

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