Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection-Reference-Cited by-同舟云学术

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Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection

Published:1992-12 Issue:6 Volume:32 Page:726-730
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Blau Nenad,Heizmann Claus W,Sperl Wolfgang,Korenke Georg C,Hoffmann Georg F,Smooker Peter M,Cotton Richard G H

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Cited by 27 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. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies;Molecular Genetics and Metabolism;2021-06

2. Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil;JIMD Reports;2021-05-05

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

4. Genetics of Phenylketonuria: Then and Now;Human Mutation;2016-03-18

5. Genetics of monoamine neurotransmitter disorders;TRANSL PEDIATR;2015

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