Wolf B - Search Results

1

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

2

Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization.

Wolf B, Jensen K. Wolf B, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):44-50. doi: 10.1016/j.ymgme.2005.07.011. Mol Genet Metab. 2005. PMID: 16150625 Review.

3

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. Wolf B, et al. Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11. doi: 10.1016/s1096-7192(02)00149-x. Mol Genet Metab. 2002. PMID: 12359137

4

Three dimensional structure of human biotinidase: computer modeling and functional correlations.

Pindolia K, Jensen K, Wolf B. Pindolia K, et al. Among authors: wolf b. Mol Genet Metab. 2007 Sep-Oct;92(1-2):13-22. doi: 10.1016/j.ymgme.2007.04.013. Epub 2007 Jul 12. Mol Genet Metab. 2007. PMID: 17629531

5

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.

6

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

7

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. Among authors: wolf b. J Inherit Metab Dis. 2000 Mar;23(2):120-8. doi: 10.1023/a:1005609614443. J Inherit Metab Dis. 2000. PMID: 10801053 Clinical Trial.

8

Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

Baykal T, Gokcay G, Gokdemir Y, Demir F, Seckin Y, Demirkol M, Jensen K, Wolf B. Baykal T, et al. Among authors: wolf b. J Inherit Metab Dis. 2005;28(6):903-12. doi: 10.1007/s10545-005-0161-3. J Inherit Metab Dis. 2005. PMID: 16435182

9

Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

Sivri HS, Genç GA, Tokatli A, Dursun A, Coşkun T, Aydin HI, Sennaroğlu L, Belgin E, Jensen K, Wolf B. Sivri HS, et al. Among authors: wolf b. J Pediatr. 2007 Apr;150(4):439-42. doi: 10.1016/j.jpeds.2007.01.036. J Pediatr. 2007. PMID: 17382128

10

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

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