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Items: 1 to 20 of 45

1.

First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.

Wolf B.

Mol Genet Metab Rep. 2016 Mar 2;6:74-6. doi: 10.1016/j.ymgmr.2016.02.006. eCollection 2016 Mar.

2.

Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.

Wolf B.

Mol Genet Metab. 2015 Nov;116(3):113-8. doi: 10.1016/j.ymgme.2015.08.012. Epub 2015 Sep 3. Review.

PMID:
26358973
3.

The Biotinidase Gene Variants Registry: A Paradigm Public Database.

Procter M, Wolf B, Crockett DK, Mao R.

G3 (Bethesda). 2013 Apr 9;3(4):727-731. doi: 10.1534/g3.113.005835.

4.

Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

Cowan TM, Kazerouni NN, Dharajiya N, Lorey F, Roberson M, Hodgkinson C, Schrijver I.

Mol Genet Metab. 2012 Aug;106(4):485-7. doi: 10.1016/j.ymgme.2012.05.017. Epub 2012 May 30.

PMID:
22698809
5.

Clinical utility gene card for: biotinidase deficiency.

Küry S, Ramaekers V, Bézieau S, Wolf B.

Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2012.28. Epub 2012 Feb 29. No abstract available.

6.

Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".

Wolf B.

Genet Med. 2012 Jun;14(6):565-75. doi: 10.1038/gim.2011.6. Epub 2012 Jan 5. Review.

PMID:
22241090
7.

The neurology of biotinidase deficiency.

Wolf B.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):27-34. doi: 10.1016/j.ymgme.2011.06.001. Epub 2011 Jun 12. Review.

PMID:
21696988
8.

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..

Genet Med. 2010 Jul;12(7):464-70. doi: 10.1097/GIM.0b013e3181e4cc0f.

PMID:
20539236
9.

Clinical issues and frequent questions about biotinidase deficiency.

Wolf B.

Mol Genet Metab. 2010 May;100(1):6-13. doi: 10.1016/j.ymgme.2010.01.003. Epub 2010 Jan 11. Review.

PMID:
20129807
10.

Profound biotinidase deficiency in a child with predominantly spinal cord disease.

Chedrawi AK, Ali A, Al Hassnan ZN, Faiyaz-Ul-Haque M, Wolf B.

J Child Neurol. 2008 Sep;23(9):1043-8. doi: 10.1177/0883073808318062. Epub 2008 Jul 21.

PMID:
18645204
11.

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.

J Pediatr. 2007 Apr;150(4):439-42. Erratum in: J Pediatr. 2007 Aug;151(2):222. Tokatlý, Ayşegül [corrected to Tokatli, Ayşegül]; Aydýn, Halil Ybrahim [corrected to Aydin, Halil Ibrahim].

PMID:
17382128
12.

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.

J Inherit Metab Dis. 2005;28(6):903-12.

PMID:
16435182
13.

Biotinidase deficiency: a treatable leukoencephalopathy.

Grünewald S, Champion MP, Leonard JV, Schaper J, Morris AA.

Neuropediatrics. 2004 Aug;35(4):211-6.

PMID:
15328559
14.

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

Weber P, Scholl S, Baumgartner ER.

Dev Med Child Neurol. 2004 Jul;46(7):481-4.

15.

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.

Braz J Med Biol Res. 2004 Mar;37(3):295-9. Epub 2004 Mar 3.

16.

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.

Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler-Ipsiroglu S.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S46-9. Epub 2003 Nov 20.

PMID:
14628140
17.

Biotinidase Deficiency: New Directions and Practical Concerns.

Wolf B.

Curr Treat Options Neurol. 2003 Jul;5(4):321-328.

PMID:
12791199
18.

Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.

Wolf B.

Eur J Pediatr. 2002 Mar;161(3):167-8; author reply 169. No abstract available.

PMID:
11998918
19.

Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.

Wolf B, Spencer R, Gleason T.

J Pediatr. 2002 Feb;140(2):242-6.

PMID:
11865279
20.

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.

Möslinger D, Stöckler-Ipsiroglu S, Scheibenreiter S, Tiefenthaler M, Mühl A, Seidl R, Strobl W, Plecko B, Suormala T, Baumgartner ER.

Eur J Pediatr. 2001 May;160(5):277-82.

PMID:
11388594

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