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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Ann Transl Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2015
Témata:
Part 4: Oral/poster
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563540/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB103
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky