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)

Publikováno v: Clinical Case Reports. Sep2022, Vol. 10 Issue 9, p1-5. 5p.

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

Autor: Hung LY; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong., Leung MT; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Chan TC; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Cheung HN; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Li WH; Department of Obstetrics & Gynaecology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Cheung YS; Department of Obstetrics & Gynaecology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Wong AS; Department of Obstetrics & Gynaecology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Shek CC; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Chen SP; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.

Publikováno v: F1000Research [F1000Res] 2021 Jun 08; Vol. 10, pp. 458. Date of Electronic Publication: 2021 Jun 08 (Print Publication: 2021).