Open AccessA neonate with hyperornithinemia-hyperammonemiahomocitrullinuria syndrome from a consanguineous Pakistani family
Author(s) -
YooMi Kim,
Han Hyuk Lim,
Mi Hyeon Gang,
Yong Wook Lee,
Sook Za Kim,
Gu-Hwan Kim,
HanWook Yoo,
Jung Min Ko,
Mea-young Chang
Publication year - 2019
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
eISSN - 2233-9108
pISSN - 1226-1769
DOI - 10.5734/jgm.2019.16.2.85
Subject(s) - urea cycle , hyperammonemia , ornithine , newborn screening , ornithine transcarbamylase deficiency , medicine , pediatrics , endocrinology , genetics , biology , amino acid , arginine
Yoo-Mi Kim* , Han Hyuk Lim , Mi Hyeon Gang , Yong Wook Lee , Sook Za Kim , Gu-Hwan Kim , Han-Wook Yoo , Jung-Min Ko , and Meayoung Chang Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University, Deajeon, Korea Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea Department of Pediatrics, Seoul National University Children’s Hospital, College of Medicine, Seoul National University, Seoul, Korea
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