Literature DB >> 22378278

Clinical utility gene card for: biotinidase deficiency.

Sébastien Küry1, Vincent Ramaekers, Stéphane Bézieau, Barry Wolf.   

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Year:  2012        PMID： 22378278      PMCID： PMC3330233          DOI： 10.1038/ejhg.2012.28

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  15 in total

1.  Worldwide survey of neonatal screening for biotinidase deficiency.

Authors:  B Wolf
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

Authors:  A Mühl; D Möslinger; C B Item; S Stöckler-Ipsiroglu
Journal:  Eur J Hum Genet       Date:  2001-04       Impact factor: 4.246

3.  Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

Authors:  K J Norrgard; R J Pomponio; K L Swango; J Hymes; T R Reynolds; G A Buck; B Wolf
Journal:  Biochem Mol Med       Date:  1997-06

4.  Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

Authors:  R J Pomponio; J Hymes; T R Reynolds; G A Meyers; K Fleischhauer; G A Buck; B Wolf
Journal:  Pediatr Res       Date:  1997-12       Impact factor: 3.756

5.  Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.

Authors:  Steven F Dobrowolski; Janine Angeletti; Richard A Banas; Edwin W Naylor
Journal:  Mol Genet Metab       Date:  2003-02       Impact factor: 4.797

6.  Partial biotinidase deficiency: clinical and biochemical features.

Authors:  J R McVoy; H L Levy; M Lawler; M A Schmidt; D D Ebers; P S Hart; D D Pettit; M G Blitzer; B Wolf
Journal:  J Pediatr       Date:  1990-01       Impact factor: 4.406

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

Authors:  R J Pomponio; T R Reynolds; H Cole; G A Buck; B Wolf
Journal:  Nat Genet       Date:  1995-09       Impact factor: 38.330

8.  Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.

Authors:  B Wolf; R E Grier; R J Allen; S I Goodman; C L Kien
Journal:  Clin Chim Acta       Date:  1983-07-15       Impact factor: 3.786

9.  A biotinidase Km variant causing late onset bilateral optic neuropathy.

Authors:  V T Ramaekers; T M Suormala; M Brab; R Duran; G Heimann; E R Baumgartner
Journal:  Arch Dis Child       Date:  1992-01       Impact factor: 3.791

10.  Neonatal screening in Europe; the situation in 2004.

Authors:  J Gerard Loeber
Journal:  J Inherit Metab Dis       Date:  2007-07-06       Impact factor: 4.982
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  2 in total

1.  Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

Authors:  Mehmet Karaca; Rıza Köksal Özgül; Özlem Ünal; Didem Yücel-Yılmaz; Mustafa Kılıç; Burcu Hişmi; Ayşegül Tokatlı; Turgay Coşkun; Ali Dursun; Hatice Serap Sivri
Journal:  Eur J Pediatr       Date:  2015-03-11       Impact factor: 3.183

2.  Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.

Authors:  Laith N Al-Eitan; Kifah Alqa'qa'; Wajdi Amayreh; Rame Khasawneh; Hanan Aljamal; Mamoon Al-Abed; Yazan Haddad; Tamara Rawashdeh; Zaher Jaradat; Hazem Haddad
Journal:  J Pers Med       Date:  2020-01-21
  2 in total

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