Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up

INTRODUCTION: Biotinidase deficiency (BTD) is an inborn error of biotin metabolism inherited as an autosomal recessive trait. Due to the, biotinidase deficiency, biotin is not recycled. Individuals with BTD usually exhibit neurological and cutaneous abnormalities unless treated with biotin. Suppleme...

Descripción completa

Detalles Bibliográficos
Autores principales: Szymańska, Edyta, Średzińska, Małgorzata, Ługowska, Agnieszka, Pajdowska, Magdalena, Rokicki, Dariusz, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471405/
https://www.ncbi.nlm.nih.gov/pubmed/28649539
http://dx.doi.org/10.1016/j.ymgmr.2015.09.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471405/
https://www.ncbi.nlm.nih.gov/pubmed/28649539
http://dx.doi.org/10.1016/j.ymgmr.2015.09.004

Ejemplares similares