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Tetrahydrobiopterin deficiencies: Lesson from clinical experience

OBJECTIVES: The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects. METHODS: We analyzed clinical, biochemical, and molecular data of nin...

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Detalles Bibliográficos
Autores principales:	Bozaci, Ayse Ergul, Er, Esra, Yazici, Havva, Canda, Ebru, Kalkan Uçar, Sema, Güvenc Saka, Merve, Eraslan, Cenk, Onay, Hüseyin, Habif, Sara, Thöny, Beat, Coker, Mahmut
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100404/ https://www.ncbi.nlm.nih.gov/pubmed/33977029 http://dx.doi.org/10.1002/jmd2.12199

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