Assessment of biotinidase activity changes over time in biotinidase deficient patients

IntroductionBiotinidase enzyme is responsible for recycling biotin which is essential for metabolic functions. Loss of function mutations in the BTD gene causes biotinidase deficiency (BTD). It is diagnosed by measuring biotinidase activity and it can lead to severe neurological symptoms. We aimed t...

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Hlavní autoři:	Aliye Gülbahçe, Ahmet Muderrisoglu, Hatice Güneş, Murat Erdoğan, Munis Dündar, Fatih Kardaş
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-03-01
Edice:	Frontiers in Pediatrics
Témata:	biotin biotinidase deficiency BTD gene consanguinity pathogenic variants
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fped.2026.1694031/full
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