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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 2
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1998 3
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PubMed (cited) for id: 609019

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Page 1
Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder.
Hernández-Vázquez A, Wolf B, Pindolia K, Ortega-Cuellar D, Hernández-González R, Heredia-Antúnez A, Ibarra-González I, Velázquez-Arellano A. Hernández-Vázquez A, et al. Mol Genet Metab. 2013 Nov;110(3):248-54. doi: 10.1016/j.ymgme.2013.08.018. Epub 2013 Sep 8. Mol Genet Metab. 2013. PMID: 24075304
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Bell CJ, et al. Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756. Sci Transl Med. 2011. PMID: 21228398 Free PMC article.
Novel mutations cause biotinidase deficiency in Turkish children.
Pomponio RJ, Coskun T, Demirkol M, Tokatli A, Ozalp I, Hüner G, Baykal T, Wolf B. Pomponio RJ, et al. J Inherit Metab Dis. 2000 Mar;23(2):120-8. doi: 10.1023/a:1005609614443. J Inherit Metab Dis. 2000. PMID: 10801053 Clinical Trial.
Structure of the human biotinidase gene.
Knight HC, Reynolds TR, Meyers GA, Pomponio RJ, Buck GA, Wolf B. Knight HC, et al. Mamm Genome. 1998 Apr;9(4):327-30. doi: 10.1007/s003359900760. Mamm Genome. 1998. PMID: 9530634
Profound biotinidase deficiency in two asymptomatic adults.
Wolf B, Norrgard K, Pomponio RJ, Mock DM, McVoy JR, Fleischhauer K, Shapiro S, Blitzer MG, Hymes J. Wolf B, et al. Am J Med Genet. 1997 Nov 28;73(1):5-9. doi: 10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9375914
17 results