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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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Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Szymańska, Edyta, Średzińska, Małgorzata, Ługowska, Agnieszka, Pajdowska, Magdalena, Rokicki, Dariusz, Tylki-Szymańska, Anna
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
Soggetti:
Accesso online: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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