Biotin-Responsive Disorders
Author:
Publisher
Springer Berlin Heidelberg
Link
https://link.springer.com/content/pdf/10.1007/978-3-662-63123-2_27
Reference50 articles.
1. Zempleni J et al (2014) Novel roles of holocarboxylase synthetase in gene regulation and intermediary metabolism. Nutr Rev. 72:369–376
2. Leon-Del-Rio A et al (2017) Holocarboxylase synthetase: a moonlighting transcriptional coregulator of gene expression and a cytosolic regulator of biotin utilization. Annu Rev Nutr 37:207–223
3. Leon-Del-Rio A (2019) Biotin in metabolism, gene expression, and human disease. J Inherit Metab Dis 42:647–654
4. Zeng WQ, Al-Yamani E, Acierno JS Jr et al (2005) Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 77:16–26
5. Baumgartner ER, Suormala T (1997) Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. Int J Vitam Nutr Res 67:377–384
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