Biotin-responsive Disorders
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-662-49771-5_26
Reference56 articles.
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2. Gravel RA (2014) Holocarboxylase synthetase: A multitalented protein with roles in biotin transfer, gene regulation and chromatin dynamics. Mol Genet Metab 11:305–306
3. Léon-Del-Río A (2005) Biotin-dependent regulation of gene expression in human cells. J Nutr Biochem 16:432–434
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. Subramanian VS, Marchant JS, Said HM (2006) Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. Am J Physiol Cell Physiol 291:C851–C859
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1. Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders;Journal of Human Genetics;2023-11-27
2. Biotin supplementation in children with symptomatic profound biotinidase deficiency and their pregnant mothers;Indian Pediatrics Case Reports;2022
3. Biotin, a universal and essential cofactor: synthesis, ligation and regulation;FEMS Microbiology Reviews;2021-01-11
4. Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency;JIMD Reports;2019-05-28
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