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Items: 1 to 20 of 153

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.

[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
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.

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
6.

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
7.

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
8.

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.

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.

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
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.

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
13.

[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
14.

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.

15.

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
16.

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.

17.

High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

Milánkovics I, Németh K, Somogyi C, Schuler A, Fekete G.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S289-92. doi: 10.1007/s10545-010-9152-0. Epub 2010 Jun 15.

PMID:
20549359
18.

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
19.

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
20.

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
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