Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ

OBJECTIVE: To compare the clinical course and outcome of patients diagnosed with one of four neonatal onset urea cycle disorders (UCDs), carbamyl phosphate synthase 1 (CPS1), ornithine transcarbamylase (OTC), argininosuccinate synthase (AS) or argininosuccinate lyase (AL) deficiency. STUDY DESIGN: C...

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發表在:J Pediatr
Main Authors: Mew, Nicholas Ah, Krivitzky, Lauren, McCarter, Robert, Batshaw, Mark, Tuchman, Mendel
格式: Artigo
語言:Inglês
出版: 2012
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4440324/
https://ncbi.nlm.nih.gov/pubmed/22901741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2012.06.065
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