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Items: 1 to 20 of 190

1.

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
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.

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

PMID:
20539236
3.

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
4.

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
5.

[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
6.

Profound biotinidase deficiency: a rare disease among native Swedes.

Ohlsson A, Guthenberg C, Holme E, von Döbeln U.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S175-80. doi: 10.1007/s10545-010-9065-y. Epub 2010 Mar 12.

PMID:
20224900
7.

Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.

Thodi G, Molou E, Georgiou V, Loukas YL, Dotsikas Y, Biti S, Papadopoulos K, Konstantinou D, Antoniadi M, Doulgerakis E.

J Hum Genet. 2011 Dec;56(12):861-5. doi: 10.1038/jhg.2011.119. Epub 2011 Oct 20.

PMID:
22011816
8.

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
9.

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
10.

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
11.

Forty-eight novel mutations causing biotinidase deficiency.

Procter M, Wolf B, Mao R.

Mol Genet Metab. 2016 Mar;117(3):369-72. doi: 10.1016/j.ymgme.2016.01.002. Epub 2016 Jan 12.

PMID:
26810761
12.

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
13.

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.

14.

Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.

Ye J, Wang T, Han LS, Qiu WJ, Zhang HW, Zhang YF, Gao XL, Wang Y, Gu XF.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S295-302. doi: 10.1007/s10545-009-1238-1. Epub 2009 Aug 29.

PMID:
19728141
15.

Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

Wolf B.

Genet Med. 2017 Apr;19(4):396-402. doi: 10.1038/gim.2016.135. Epub 2016 Sep 22.

PMID:
27657684
16.

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.

17.

A case of partial biotinidase deficiency associated with autism.

Zaffanello M, Zamboni G, Fontana E, Zoccante L, Tatò L.

Child Neuropsychol. 2003 Sep;9(3):184-8.

PMID:
13680408
18.

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
19.

[Biotinidase deficiency: the two faces of metabolic screening].

Pintos-Morell G.

Med Clin (Barc). 2011 Oct 22;137(11):497-9. doi: 10.1016/j.medcli.2011.05.007. Epub 2011 Jul 20. Spanish. No abstract available.

PMID:
21764085
20.

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.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11.

PMID:
12359137

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