Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient
Author:
Funder
Science and Engineering Research Board
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s11033-024-09827-5.pdf
Reference40 articles.
1. Wolf B (2023) Biotinidase Deficiency. University of Washington, Seattle
2. Canda E, Kalkan Uçar S, Çoker M (2020) Biotinidase Deficiency: prevalence, impact and management strategies. Pediatr Health Med Ther 11:127–133
3. Wolf B (1991) Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 14:923–927
4. Zempleni J, Kuroishi T (2012) Biotin Adv Nutr 3:213–214
5. Hymes J, Wolf B (1996) Biotinidase and its roles in biotin metabolism. Clin Chim Acta 255:1–11
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