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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...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Szymańska, Edyta, Średzińska, Małgorzata, Ługowska, Agnieszka, Pajdowska, Magdalena, Rokicki, Dariusz, Tylki-Szymańska, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471405/
https://ncbi.nlm.nih.gov/pubmed/28649539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.09.004
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