BTD References

The web links shown below are existing online resources for BTD and associated biotinidase deficiency. Links to several review journal articles are given, as well as genome and protein links.

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Databases

• BTD: The Human Gene Mutation Database
• BTD: MutDB

Gene and Protein Links

• BTD cDNA: NC_00003.10
• BTD mRNA: NM_000060.2
• BTD protein: NP_000051.1
• BTD at HPRD and Uniprot

Web Reviews

• Entrez Gene: BTD
• GeneReviews for BTD
• OMIM for Biotinidase; BTD
• Genetics Home Reference for Biotinidase Deficiency

Peer-Reviewed Literature

• Wolf B, Grier RE, Parker WD Jr, Goodman SI, Allen RJ.Deficient biotinidase activity in late-onset multiple carboxylase deficiency.N Engl J Med. 1983 Jan 20;308(3):161.
• Hymes J, Stanley CM, Wolf B. Mutations in BTD causing biotinidase deficiency. Hum Mutat. 2001 Nov;18(5):375-81.
• Wolf B. Clinical issues and frequent questions about biotiotinidase deficiency Mol Genet Metab. 2010 May;100(1):6-13.
• Cowan TM, Blitzer MG, Wolf B.Technical standards and guidelines for the diagnosis of biotinidase deficiency.Genet Med. 2010 Jul;12(7):464-70.
• Pindolia K, Jordan M, Wolf B.Analysis of mutations causing biotinidase deficiency.Hum Mutat. 2010 Sep;31(9):983-91.