AB103. Phenotype and genotype of urea cycle defect in a Vietnamese referral center

BACKGROUND AND OBJECTIVE: Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle. Clinical spectrum of UCDs is variant from mild to severe form. To describe clinical spectrum and genotype of UCDs...

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Bibliographische Detailangaben
Veröffentlicht in:Ann Transl Med
Hauptverfasser: Nguyen, Khanh Ngoc, Bui, Huong Thi, Vu, Dung Chi, Can, Ngoc Thi Bich, Bui, Thao Phuong, Nguyen, Mai Chi, Daut, Hung Viet, Dang, Tuan Anh, Yamaguchi, Seiji, Kim, Gu-Hwan, Yoo, Han Wook
Format: Artigo
Sprache:Inglês
Veröffentlicht: AME Publishing Company 2015
Schlagworte:
Part 4: Oral/poster
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563540/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB103
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