Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance-Reference-Cited by-同舟云学术

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Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance

Published:2022-09 Issue:9 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Chan Toby Chun Hei¹^ORCID,Cheung Hoi Ning¹^ORCID,Chow Jasmine²,Leung Mei Tik¹,Chen Sammy Pak Lam¹,Shek Chi Chung¹

Affiliation:

1. Department of Pathology Queen Elizabeth Hospital Hong Kong China

2. Department of Paediatrics Queen Elizabeth Hospital Hong Kong China

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6347

Reference9 articles.

1. A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

2. Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

3. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficency

4. Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

5. A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father

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