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...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Frontiers Media S.A.
2026-03-01
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| Saila: | Frontiers in Pediatrics |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.frontiersin.org/articles/10.3389/fped.2026.1694031/full |
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