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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

作者信息

Chapel-Crespo Cristel, Gavrilov Dimitar, Sowa Mary, Myers Jessica, Day-Salvatore Debra-Lynn, Lynn Haley, Regier Debra, Starin Danielle, Steenari Maija, Schoonderwoerd Kees, Abdenur Jose E

机构信息

CHOC Children's, Orange, CA, USA.

Mayo Clinic, Rochester, MN, USA.

出版信息

Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29.

DOI:10.1016/j.ymgme.2019.07.015
PMID:31395333
Abstract
摘要

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