A preliminary retrospective evaluation of screening and diagnosis of ornithine transcarbamylase deficiency in high-risk patients at a referral center in Vietnam

Author:

Tran Dien Minh,Tran Trang Thi Thu,Luong Quyen Hue,Tran Mai Thi ChiORCID

Publisher

Elsevier BV

Reference27 articles.

1. Mew A., Simpson K.L., Gropman A.L., Lanpher B.C., Chapman K.A., Summar M.L., Urea Cycle Disorders Overview, 2003 Apr 29 [Updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1217/2017.

2. Newborn screening for proximal urea cycle disorders: current evidence supporting recommendations for newborn screening;Merritt II;Mol. Genet. Metabol.,2018

3. Three-country snapshot of ornithine transcarbamylase deficiency;Seker Yilmaz;Life,2022

4. Urea cycle disorders: diagnosis, pathophysiology, and therapy;Brusilow;Adv. Pediatr.,1996

5. Estimated frequency of urea cycle enzymopathies in Japan;Nagata;Am. J. Med. Genet.,1991

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