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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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Principais autores: Aliye Gülbahçe, Ahmet Muderrisoglu, Hatice Güneş, Murat Erdoğan, Munis Dündar, Fatih Kardaş
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2026-03-01
Serier:Frontiers in Pediatrics
Fag:
biotin
biotinidase deficiency
BTD gene
consanguinity
pathogenic variants
Online adgang:https://www.frontiersin.org/articles/10.3389/fped.2026.1694031/full
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