Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease-Reference-Cited by-同舟云学术

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Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease

Published:2024-08-01 Issue: Volume: Page:
ISSN:2168-8184
Container-title:Cureus
language:en
Short-container-title:

Author:

Anderson Sharon,Ciarlariello Molly,Botti Christina,Velinov Milen

Publisher

Springer Science and Business Media LLC

Reference12 articles.

1. Ornithine transcarbamylase deficiency. (n.d.). Accessed. 07/15/24: https://medlineplus.gov/genetics/condition/ornithine-transcarbamylase-deficiency/.

2. OTC gene. (2024). Accessed. July 22, 2024: https://medlineplus.gov/genetics/gene/otc/.

3. Ornithine transcarbamylase deficiency;Lichter-Konecki U,2022

4. Pathogenic variants of ornithine transcarbamylase deficiency: nation-wide study in Japan and literature review;Kido J;Front Genet,2022

5. Role of liver transplantation in urea cycle disorders: report from a nationwide study in Japan;Kido J;J Inherit Metab Dis,2021

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