Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations-Reference-Cited by-同舟云学术

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Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations

Published:2020-07-23 Issue: Volume:8 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Nguyen Huy-Hoang,Khanh Nguyen Ngoc,Dung Vu Chi,Thu Huong Nguyen Thi,Nguyen Ngoc-Lan

Funder

Vietnam Academy of Science and Technology

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology and Child Health

Reference43 articles.

1. Long-term treatment of girls with ornithine transcarbamylase deficiency;Maestri;N Engl J Med.,1996

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

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

4. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency;Choi;J Hum Genet.,2015

5. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency;Batshaw;J Pediatr.,1986

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function;Frontiers in Pediatrics;2024-09-12

2. Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency;Children;2023-08-09

3. Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia;Molecular Genetics and Metabolism;2023-07

4. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11

5. A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report;Neurocase;2022-07-04

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