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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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Detalles Bibliográficos
Principais autores: Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi
Formato: Artigo
Idioma:Inglês
Publicado: Wiley 2025-01-01
Series:JIMD Reports
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Acceso en liña:https://doi.org/10.1002/jmd2.12468
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