A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates
ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries. Aims To describe clin...
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| Principais autores: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wiley
2025-01-01
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| Serier: | JIMD Reports |
| Fag: | |
| Online adgang: | https://doi.org/10.1002/jmd2.12468 |
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