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References

These sources were used to develop the Genetics Home Reference gene summary on the BTD gene.

Dobrowolski SF, Angeletti J, Banas RA, Naylor EW. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Mol Genet Metab. 2003 Feb;78(2):100-7. PubMed citation
Entrez Gene
Hymes J, Stanley CM, Wolf B. Mutations in BTD causing biotinidase deficiency. Hum Mutat. 2001 Nov;18(5):375-81. Review. PubMed citation
McMahon RJ. Biotin in metabolism and molecular biology. Annu Rev Nutr. 2002;22:221-39. Epub 2002 Jan 4. Review. PubMed citation
Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE. Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Hum Mutat. 2005 Apr;25(4):413. PubMed citation
Wolf B. Biotinidase: its role in biotinidase deficiency and biotin metabolism. J Nutr Biochem. 2005 Jul;16(7):441-5. Review. PubMed citation
Wolf B. Biotinidase Deficiency: New Directions and Practical Concerns. Curr Treat Options Neurol. 2003 Jul;5(4):321-328. PubMed citation

Reviewed: January 2008

Published: May 20, 2013