Wolf B - Search Results

1

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

2

Technical standards and guidelines for the diagnosis of biotinidase deficiency.

Cowan TM, Blitzer MG, Wolf B; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. Cowan TM, et al. Among authors: wolf b. Genet Med. 2010 Jul;12(7):464-70. doi: 10.1097/GIM.0b013e3181e4cc0f. Genet Med. 2010. PMID: 20539236 Free article.

3

Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.

Pindolia K, Jordan M, Guo C, Matthews N, Mock DM, Strovel E, Blitzer M, Wolf B. Pindolia K, et al. Among authors: wolf b. Mol Genet Metab. 2011 Feb;102(2):161-9. doi: 10.1016/j.ymgme.2010.10.005. Epub 2010 Oct 13. Mol Genet Metab. 2011. PMID: 21051254 Free PMC article.

4

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

Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B. Pomponio RJ, et al. Among authors: wolf b. Nat Genet. 1995 Sep;11(1):96-8. doi: 10.1038/ng0995-96. Nat Genet. 1995. PMID: 7550325

5

Biotinylation of biotinidase following incubation with biocytin.

Hymes J, Fleischhauer K, Wolf B. Hymes J, et al. Among authors: wolf b. Clin Chim Acta. 1995 Jan 16;233(1-2):39-45. doi: 10.1016/0009-8981(94)05965-u. Clin Chim Acta. 1995. PMID: 7758201

6

Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency.

Hymes J, Fleischhauer K, Wolf B. Hymes J, et al. Among authors: wolf b. Biochem Mol Med. 1995 Oct;56(1):76-83. doi: 10.1006/bmme.1995.1059. Biochem Mol Med. 1995. PMID: 8593541

7

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

8

Biotinidase and its roles in biotin metabolism.

Hymes J, Wolf B. Hymes J, et al. Among authors: wolf b. Clin Chim Acta. 1996 Nov 15;255(1):1-11. doi: 10.1016/0009-8981(96)06396-6. Clin Chim Acta. 1996. PMID: 8930409 Review.

9

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

10

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

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