Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase-Reference-Cited by-同舟云学术

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Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase

Published:1991-05-01 Issue:5 Volume:41 Page:730-737
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Al Aqeel A.,Ozand P. T.,Gascon G.,Nester M.,Al. Nasser M.,Brismar J.,Blau N.,Hughes H.,Subramanyan S. B.,Reynolds C. T.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 22 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. Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review;Children;2023-04-14

2. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies;Orphanet Journal of Rare Diseases;2020-05-26

3. Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia;Orphanet Journal of Rare Diseases;2016-09-15

4. Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions;American Journal of Medical Genetics Part A;2012-08-17

5. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia;Journal of Inherited Metabolic Disease;2012-06-23

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