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Items: 1 to 20 of 157

1.

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
2.

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
3.

Analysis of mutations causing biotinidase deficiency.

Pindolia K, Jordan M, Wolf B.

Hum Mutat. 2010 Sep;31(9):983-91. doi: 10.1002/humu.21303.

PMID:
20556795
4.

Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.

Pindolia K, Li H, Cardwell C, Wolf B.

Mol Genet Metab. 2014 May;112(1):49-56. doi: 10.1016/j.ymgme.2014.02.008. Epub 2014 Feb 21.

PMID:
24630269
5.

Biotinidase deficiency and our champagne legacy.

Wolf B.

Gene. 2016 Sep 10;589(2):142-50. doi: 10.1016/j.gene.2015.10.010. Epub 2015 Oct 9. Review.

PMID:
26456103
6.

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.

Mol Genet Metab. 2011 Feb;102(2):161-9. doi: 10.1016/j.ymgme.2010.10.005. Epub 2010 Oct 13.

7.

Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.

Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B.

Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21.

PMID:
25144890
8.

Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.

Pindolia K, Chen J, Cardwell C, Cui X, Chopp M, Wolf B.

Neurobiol Dis. 2012 Sep;47(3):428-35. doi: 10.1016/j.nbd.2012.04.016. Epub 2012 May 8.

9.

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B.

Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16.

PMID:
24797656
10.

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
11.

Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.

Afroze B, Wasay M.

J Coll Physicians Surg Pak. 2013 Nov;23(10):823-5. doi: 11.2013/JCPSP.823825.

PMID:
24169397
12.

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
13.

[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M.

Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Spanish.

PMID:
21752405
14.

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

Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B.

Nat Genet. 1995 Sep;11(1):96-8.

PMID:
7550325
15.

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.

Am J Med Genet. 1997 Nov 28;73(1):5-9.

PMID:
9375914
16.

Audiologic findings in children with biotinidase deficiency in Turkey.

Genc GA, Sivri-Kalkanoğlu HS, Dursun A, Aydin HI, Tokatli A, Sennaroglu L, Belgin E, Wolf B, Coşkun T.

Int J Pediatr Otorhinolaryngol. 2007 Feb;71(2):333-9. Epub 2006 Dec 11.

PMID:
17161472
17.

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.

Hum Mutat. 2005 Apr;25(4):413.

PMID:
15776412
18.

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
19.

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
20.

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.

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