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...

Descripción completa

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

Internet

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

Ejemplares similares