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4 - Biotin and biotin-responsive disorders

from SECTION II - COFACTORS

Published online by Cambridge University Press:  17 November 2010

By
Kirit Pindolia  and
Barry Wolf
Edited by
Jess G. Thoene
Jess G. Thoene
Affiliation:
University of Michigan, Ann Arbor
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Chapter
Information
Small Molecule Therapy for Genetic Disease , pp. 57 - 67
Publisher: Cambridge University Press
Print publication year: 2010

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References

Wolf, B. Disorders of biotin metabolism. Scriver, C., Beaudet, A., Sly, W., Valle, D., eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edition, McGraw Hill, 5085–5108, 2001Google Scholar
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Said, HM. Recent advances in carrier-mediated intestinal absorption of water-soluble vitamins. Annu Rev Physiol. 2004;66:419–446CrossRefGoogle ScholarPubMed
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Baumgartner, ER, Suormala, T. Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. Int J Vitam Nutr Res. 1997;67(5):377–384Google ScholarPubMed
Wolf, B. Disorders of biotin metabolism: treatable neurologic syndrome. Rosenberg, R. N., DiMauro, S., Paulson, H. L., Ptácek, L., eds. The Molecular and Genetic Basis of Neurologic and Psychiatric Disease, 4th edition, Lippincott Williams & Wilkins, 705–710, 2007Google Scholar
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Wolf, B, Spencer, R, Gleason, T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr. 2002;140(2):242–246CrossRefGoogle ScholarPubMed
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Jenuwein, T, Allis, CD. Translating the histone code. Science. 2001;293(5532):1074–1080CrossRefGoogle ScholarPubMed
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Hymes, J, Stanley, CM, Wolf, B. Mutations in BTD causing biotinidase deficiency. Hum Mutat. 2001;18(5):375–381CrossRefGoogle ScholarPubMed
Pindolia, K, Jensen, K, Wolf, B. Three dimensional structure of human biotinidase: computer modeling and functional correlations. Mol Genet Metab. 2007
Mardach, R, Zempleni, J, Wolf, B, Cannon, MJ, Jennings, ML, Cress, S, Boylan, J, Roth, S, Cederbaum, S, Mock, DM. Biotin dependency due to a defect in biotin transport. J Clin Invest. 2002;109(12):1617–1623CrossRefGoogle ScholarPubMed
Visser, CM, Kellogg, RM. Biotin. Its place in evolution. J Mol Evol. 1978;11(2):171–187CrossRefGoogle Scholar
,US FDA Drug Watch url: http://www.fda.gov/medwatch/SAFETY/2001/apr01.htm

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