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Items: 1 to 20 of 182

1.

Mutations in BTD causing biotinidase deficiency.

Hymes J, Stanley CM, Wolf B.

Hum Mutat. 2001 Nov;18(5):375-81. Review.

PMID:
11668630
3.

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

Norrgard KJ, Pomponio RJ, Swango KL, Hymes J, Reynolds TR, Buck GA, Wolf B.

Biochem Mol Med. 1997 Jun;61(1):22-7.

PMID:
9232193
4.

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.

Hum Genet. 1998 May;102(5):571-5. Erratum in: Hum Genet 1998 Jun;102(6):712.

PMID:
9654207
5.

Analysis of mutations causing biotinidase deficiency.

Pindolia K, Jordan M, Wolf B.

Hum Mutat. 2010 Sep;31(9):983-91. doi: 10.1002/humu.21303.

PMID:
20556795
6.

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.

Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B.

Nat Genet. 1995 Sep;11(1):96-8.

PMID:
7550325
7.
8.

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.

Hum Genet. 1997 Apr;99(4):506-12.

PMID:
9099842
9.

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.

Pediatr Res. 1997 Dec;42(6):840-8.

PMID:
9396567
10.

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B.

Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16.

PMID:
24797656
11.

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

Mühl A, Möslinger D, Item CB, Stöckler-Ipsiroglu S.

Eur J Hum Genet. 2001 Apr;9(4):237-43.

12.

Novel mutations cause biotinidase deficiency in Turkish children.

Pomponio RJ, Coskun T, Demirkol M, Tokatli A, Ozalp I, Hüner G, Baykal T, Wolf B.

J Inherit Metab Dis. 2000 Mar;23(2):120-8.

PMID:
10801053
13.

Seventeen novel mutations that cause profound biotinidase deficiency.

Wolf B, Jensen K, Hüner G, Demirkol M, Baykal T, Divry P, Rolland MO, Perez-Cerdá C, Ugarte M, Straussberg R, Basel-Vanagaite L, Baumgartner ER, Suormala T, Scholl S, Das AM, Schweitzer S, Pronicka E, Sykut-Cegielska J.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11.

PMID:
12359137
14.

Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.

Thodi G, Molou E, Georgiou V, Loukas YL, Dotsikas Y, Biti S, Papadopoulos K, Konstantinou D, Antoniadi M, Doulgerakis E.

J Hum Genet. 2011 Dec;56(12):861-5. doi: 10.1038/jhg.2011.119. Epub 2011 Oct 20.

PMID:
22011816
15.

Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.

Blanton SH, Pandya A, Landa BL, Javaheri R, Xia X, Nance WE, Pomponio RJ, Norrgard KJ, Swango KL, Demirkol M, Gülden H, Coskun T, Tokatli A, Ozalp I, Wolf B.

Hum Hered. 2000 Mar-Apr;50(2):102-11.

PMID:
10799968
16.

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

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.

Hum Mutat. 2005 Apr;25(4):413.

PMID:
15776412
17.

High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

Milánkovics I, Németh K, Somogyi C, Schuler A, Fekete G.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S289-92. doi: 10.1007/s10545-010-9152-0. Epub 2010 Jun 15.

PMID:
20549359
18.

Screening for biotinidase deficiency in newborns: worldwide experience.

Wolf B, Heard GS.

Pediatrics. 1990 Apr;85(4):512-7.

PMID:
2314964
19.

Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.

Pomponio RJ, Yamaguchi A, Arashima S, Hymes J, Wolf B.

Mol Genet Metab. 1998 Jun;64(2):152-4.

PMID:
9705240
20.

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