Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

BACKGROUND: Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and th...

詳細記述

保存先:
書誌詳細
出版年:Orphanet J Rare Dis
主要な著者: Unsinn, Caroline, Das, Anibh, Valayannopoulos, Vassili, Thimm, Eva, Beblo, Skadi, Burlina, Alberto, Konstantopoulou, Vassiliki, Mayorandan, Sebene, de Lonlay, Pascale, Rennecke, Jörg, Derbinski, Jens, Hoffmann, Georg F., Häberle, Johannes
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2016
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4991093/
https://ncbi.nlm.nih.gov/pubmed/27538463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0493-0
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