PubMed (OMIM) for id: 66323

Year	Number of Results
1971	1
1973	1
1977	1
1979	2
1980	2
1981	2
1982	1
1983	4
1985	7
1986	3
1988	4
1989	2
1990	1
1991	1
1992	2
1994	4
1995	1
1996	2
1997	4
1998	2
1999	1
2000	1
2001	2
2023	0

1

Mutations in BTD causing biotinidase deficiency.

Hymes J, Stanley CM, Wolf B. Hymes J, et al. Hum Mutat. 2001 Nov;18(5):375-81. doi: 10.1002/humu.1208. Hum Mutat. 2001. PMID: 11668630 Review.

2

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

Mühl A, Möslinger D, Item CB, Stöckler-Ipsiroglu S. Mühl A, et al. Eur J Hum Genet. 2001 Apr;9(4):237-43. doi: 10.1038/sj.ejhg.5200620. Eur J Hum Genet. 2001. PMID: 11313766

3

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.

4

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

Norrgard KJ, Pomponio RJ, Hymes J, Wolf B. Norrgard KJ, et al. Pediatr Res. 1999 Jul;46(1):20-7. doi: 10.1203/00006450-199907000-00004. Pediatr Res. 1999. PMID: 10400129

5

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

Swango KL, Demirkol M, Hüner G, Pronicka E, Sykut-Cegielska J, Schulze A, Mayatepek E, Wolf B. Swango KL, et al. Hum Genet. 1998 May;102(5):571-5. doi: 10.1007/s004390050742. Hum Genet. 1998. PMID: 9654207

6

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

7

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B. Pomponio RJ, et al. Pediatr Res. 1997 Dec;42(6):840-8. doi: 10.1203/00006450-199712000-00020. Pediatr Res. 1997. PMID: 9396567

8

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

9

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.

Pomponio RJ, Reynolds TR, Mandel H, Admoni O, Melone PD, Buck GA, Wolf B. Pomponio RJ, et al. Hum Mol Genet. 1997 May;6(5):739-45. doi: 10.1093/hmg/6.5.739. Hum Mol Genet. 1997. PMID: 9158148

10

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

Pomponio RJ, Norrgard KJ, Hymes J, Reynolds TR, Buck GA, Baumgartner R, Suormala T, Wolf B. Pomponio RJ, et al. Hum Genet. 1997 Apr;99(4):506-12. doi: 10.1007/s004390050397. Hum Genet. 1997. PMID: 9099842

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