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Recovery of enzyme activity in biotinidase deficient individuals during early childhood

Deficiency of the biotinidase (BTD) enzyme is an inborn error of biotin metabolism caused by biallelic pathogenic variants in the BTD gene. There are two forms, partial and profound BTD deficiency, which both can be successfully treated with pharmacological doses of biotin, justifying the inclusion...

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Detalles Bibliográficos
Autores principales: Forny, Patrick, Wicht, Andrea, Rüfenacht, Véronique, Cremonesi, Alessio, Häberle, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310736/
https://www.ncbi.nlm.nih.gov/pubmed/35195902
http://dx.doi.org/10.1002/jimd.12490