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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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2021
Assuntos:
Research Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8100404/
https://ncbi.nlm.nih.gov/pubmed/33977029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12199
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