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.

Autor: Chan, Toby Chun Hei1 (AUTHOR) cch191@ha.org.hk, Cheung, Hoi Ning1 (AUTHOR), Chow, Jasmine2 (AUTHOR), Leung, Mei Tik1 (AUTHOR), Chen, Sammy Pak Lam1 (AUTHOR), Shek, Chi Chung1 (AUTHOR)
Zdroj: Clinical Case Reports. Sep2022, Vol. 10 Issue 9, p1-5. 5p.
Databáze: Academic Search Ultimate
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