Wolf B - Search Results

1

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

2

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.

3

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

4

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.

5

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

6

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

7

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

8

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

9

Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.

Bay CA, Berry GT, Glauser TA, Hayward JC, Wolf B, Sladky JT, Kaplan P. Bay CA, et al. Among authors: wolf b. J Inherit Metab Dis. 1995;18(6):701-4. doi: 10.1007/BF02436759. J Inherit Metab Dis. 1995. PMID: 8750607

10

Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.

Neto EC, Schulte J, Rubim R, Lewis E, DeMari J, Castilhos C, Brites A, Giugliani R, Jensen KP, Wolf B. Neto EC, et al. Among authors: wolf b. Braz J Med Biol Res. 2004 Mar;37(3):295-9. doi: 10.1590/s0100-879x2004000300001. Epub 2004 Mar 3. Braz J Med Biol Res. 2004. PMID: 15060693 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,987 results

Search Page