Tetrahydrobiopterin deficiencies: Lesson from clinical experience-Reference-Cited by-同舟云学术

Tetrahydrobiopterin deficiencies: Lesson from clinical experience

Published:2021-02 Issue:1 Volume:59 Page:42-51
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Bozaci Ayse Ergul¹^ORCID,Er Esra²,Yazici Havva¹,Canda Ebru¹,Kalkan Uçar Sema¹^ORCID,Güvenc Saka Merve²,Eraslan Cenk³,Onay Hüseyin⁴,Habif Sara⁵,Thöny Beat⁶^ORCID,Coker Mahmut¹

Affiliation:

1. Department of Pediatrics, Division of Pediatric Metabolism Ege University Faculty of Medicine Izmir Turkey

2. Tepecik Research and Training Hospital, Department of Genetics Izmir Turkey

3. Department of Radiology Ege University Faculty of Medicine Izmir Turkey

4. Department of Medical Genetics Ege University Faculty of Medicine Izmir Turkey

5. Department of Medical Biochemistry Ege University Faculty of Medicine Izmir Turkey

6. Division of Metabolism University Children's Hospital Zurich and Children's Research Center Zurich Switzerland

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12199

Reference37 articles.

1. Abnormalities of biogenic amine metabolism

2. Tetrahydrobiopterin: biochemistry and pathophysiology

3. Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment

4. Tetrahydrobiopterin Deficiencies without Hyperphenylalaninemia: Diagnosis and Genetics of DOPA-Responsive Dystonia and Sepiapterin Reductase Deficiency

5. Tetrahydrobiopterin biosynthesis, regeneration and functions

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