Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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4. Structure of the human ornithine transcarbamylase gene;Hata;J Biochem,1988
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1. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11
2. Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect;BMJ Case Reports;2021-05
3. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis;BMC Medical Genetics;2018-03-20
4. Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia;Clinical Journal of Gastroenterology;2017-06-09
5. Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations;Journal of Human Genetics;2009-11-06
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