Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia-Reference-Cited by-同舟云学术

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Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia

Published:2018-11-15 Issue:1 Volume:15 Page:66-71
ISSN:1708-8569
Container-title:World Journal of Pediatrics
language:en
Short-container-title:World J Pediatr

Author:

Bao Pei-Zhong,Ye Jun,Han Lian-Shu,Qiu Wen-Juan,Zhang Hui-Wen,Yu Yong-Guo,Wang Jian-Guo,Gu Xue-Fan

Funder

Supported by the national key Research and Development program of China

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/article/10.1007/s12519-018-0202-2/fulltext.html

Reference10 articles.

1. Blau N. Phenylketonuria and BH4 deficiencies. 3rd ed. Bremen: UNI-MED; 2016.

2. Ye J, Yang Y, Yu W, Zou H, Jiang J, Yang R, et al. Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. J Inherit Metab Dis. 2013;36:893–901.

3. Opladen T, Hoffmann GF, Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis. 2012;35:963–73.

4. Ye J, Yang Y, Yu W, Zou H, Jiang J, Yang R, et al. Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. J Inherit Metab Dis. 2013;36:893–901.

5. Opladen T, Abu Seda B, Rassi A, Thöny B, Hoffmann GF, Blau N, et al. Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. J Inherit Metab Dis. 2011;34:819–26.

Cited by 3 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. Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia;Molecular Syndromology;2024

2. Insights into Molecular Structure of Pterins Suitable for Biomedical Applications;International Journal of Molecular Sciences;2022-12-03

3. Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency;Frontiers in Genetics;2022-09-12

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