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 inhe...

por Chan, Toby Chun Hei, Cheung, Hoi Ning, Chow, Jasmine, Leung, Mei Tik, Chen, Sammy Pak Lam, Shek, Chi Chung
Publicado 2022

Case Report: The first familial hCG syndrome in a Chinese family

por Hung, Ling-Yin, Leung, Mei-Tik, Chan, Toby Chun-Hei, Cheung, Hoi-Ning, Li, Wai-Hon, Cheung, Yui-Shing, Wong, Assumpta Sze-Man, Shek, Chi-Chung, Chen, Sammy Pak-Lam
Publicado 2021