Wolf B - Search Results

1

Clinical utility gene card for: biotinidase deficiency.

Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Among authors: wolf b. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2012.28. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378278 Free PMC article. No abstract available.

2

Clinical utility gene card for: Biotinidase deficiency-update 2015.

Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Among authors: wolf b. Eur J Hum Genet. 2016 Jul;24(7). doi: 10.1038/ejhg.2015.246. Epub 2015 Nov 18. Eur J Hum Genet. 2016. PMID: 26577040 Free PMC article. Review. No abstract available.

3

Delayed-onset profound biotinidase deficiency.

Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Baumgartner ER, Suormala T, Ramaekers VT, Coskun T, Tokatli A, Ozalp I, Hymes J. Wolf B, et al. J Pediatr. 1998 Feb;132(2):362-5. doi: 10.1016/s0022-3476(98)70464-0. J Pediatr. 1998. PMID: 9506660

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. Swango KL, et al. Among authors: wolf b. Hum Genet. 1998 May;102(5):571-5. doi: 10.1007/s004390050742. Hum Genet. 1998. PMID: 9654207

5

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. Among authors: wolf b. Hum Genet. 1997 Apr;99(4):506-12. doi: 10.1007/s004390050397. Hum Genet. 1997. PMID: 9099842

6

Analysis of mutations causing biotinidase deficiency.

Pindolia K, Jordan M, Wolf B. Pindolia K, et al. Among authors: wolf b. Hum Mutat. 2010 Sep;31(9):983-91. doi: 10.1002/humu.21303. Hum Mutat. 2010. PMID: 20556795

7

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. Among authors: wolf b. Hum Mol Genet. 1997 May;6(5):739-45. doi: 10.1093/hmg/6.5.739. Hum Mol Genet. 1997. PMID: 9158148

8

Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.

Hart PS, Hymes J, Wolf B. Hart PS, et al. Among authors: wolf b. Am J Hum Genet. 1992 Jan;50(1):126-36. Am J Hum Genet. 1992. PMID: 1729884 Free PMC article.

9

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. Wolf B, et al. Hum Mutat. 2005 Apr;25(4):413. doi: 10.1002/humu.9329. Hum Mutat. 2005. PMID: 15776412

10

Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.

Pomponio RJ, Narasimhan V, Reynolds TR, Buck GA, Povirk LF, Wolf B. Pomponio RJ, et al. Among authors: wolf b. Hum Mol Genet. 1996 Oct;5(10):1657-61. doi: 10.1093/hmg/5.10.1657. Hum Mol Genet. 1996. PMID: 8894703

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