Hyperornithinemia–Hyperammonemia–Homocitrullinuria Syndrome in Vietnamese Patients

Hyperornithinemia–Hyperammonemia–Homocitrullinuria Syndrome in Vietnamese Patients

<i>Background and Objectives</i>: Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome (HHH; OMIM 238970) is one of the rare urea cycle disorders. Ornithine carrier 1 deficiency causes HHH syndrome, characterized by failure of mitochondrial ornithine uptake, hyperammonemia, and ac...

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Main Authors: Khanh Ngoc Nguyen, Van Khanh Tran, Ngoc Lan Nguyen, Thi Bich Ngoc Can, Thi Kim Giang Dang, Thu Ha Nguyen, Thi Thanh Mai Do, Le Thi Phuong, Thinh Huy Tran, Thanh Van Ta, Nguyen Huu Tu, Chi Dung Vu
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Medicina
Subjects:
HHH syndrome
<i>SLC25A15</i> variant
Vietnamese patients
p.Arg179*
p.Phe188del
p.Met137Cysfs*10
Online Access:https://www.mdpi.com/1648-9144/60/11/1877
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