Treatment and management for children with urea cycle disorder in chronic stage

Author:

HUANG Xinwen

Publisher

China Science Publishing & Media Ltd.

Subject

General Medicine

Reference56 articles.

1. Committee of Clinical Biochemical Genetics, Branch of Medical Genetic Physician, Chinese Medical Doctor Association; the Subspecialty Group of Endocrino-logic, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association; Division of Genetics and Metabolomics, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, et al. Guidelines for diagnosis, treatment and management of urea cycle disorders in China[J]. Chinese Journal of Pediatrics, 2022, 60(11): 1118-1126. (in Chinese).

2. 中国医师协会医学遗传医师分会临床生化专业委员会, 中华医学会儿科学分会内分泌遗传代谢学组, 中国妇幼保健协会儿童疾病和保健分会遗传代谢学组, 等. 中国尿素循环障碍诊断治疗和管理指南[J]. 中华儿科杂志, 2022, 60(11): 1118-1126..

3. HÄBERLE J, BURLINA A, CHAKRAPANI A. Suggested guidelines for the diagnosis and manage-ment of urea cycle disorders: first revision. J Inherit Metab Dis, 2019, 42: 1192-1230.

4. AH MEW N, KRIVITZKY L, MCCARTER R. Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. J Pediatr, 2013, 162: 324-329.e1.

5. SEKER YILMAZ B, BARUTEAU J, ARSLAN N. Three-country snapshot of ornithine transcarbamylase deficiency. Life (Basel), 2022, 12:

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