Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3084622 | Pediatric Neurology | 2014 | 7 Pages |
Abstract
Ornithine transcarbamylase deficiency was genetically heterogeneous in the seven Korean patients with confirmed ornithine transcarbamylase deficiency diagnosis by biochemical findings and/or genetic analysis, together with two novel mutations in the OTC gene. We hope that these data will contribute to a better understanding of the clinical course and distinct molecular genetic characteristics of Korean patients with ornithine transcarbamylase deficiency.
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Authors
Jung Hyun MD, Gu-Hwan PhD, Han-Wook MD, Chong-Kun MD,