Literature DB >> 26577040

Clinical utility gene card for: Biotinidase deficiency-update 2015.

Sébastien Küry1, Vincent Ramaekers2, Stéphane Bézieau1, Barry Wolf3,4.   

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Year:  2015        PMID： 26577040      PMCID： PMC5070897          DOI： 10.1038/ejhg.2015.246

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


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  37 in total

Review 1.  Marginal biotin deficiency is teratogenic.

Authors:  J Zempleni; D M Mock
Journal:  Proc Soc Exp Biol Med       Date:  2000-01

2.  Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.

Authors:  T Baykal; G Gokcay; Y Gokdemir; F Demir; Y Seckin; M Demirkol; K Jensen; B Wolf
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Worldwide survey of neonatal screening for biotinidase deficiency.

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

4.  Comprehensive cost-utility analysis of newborn screening strategies.

Authors:  Aaron E Carroll; Stephen M Downs
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

5.  Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.

Authors:  K J Norrgard; R J Pomponio; K L Swango; J Hymes; T Reynolds; G A Buck; B Wolf
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

6.  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

7.  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

8.  Marginal biotin deficiency is teratogenic in ICR mice.

Authors:  Donald M Mock; Nell I Mock; Christopher W Stewart; James B LaBorde; Deborah K Hansen
Journal:  J Nutr       Date:  2003-08       Impact factor: 4.798

9.  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

10.  Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.

Authors:  E C Neto; J Schulte; R Rubim; E Lewis; J DeMari; C Castilhos; A Brites; R Giugliani; K P Jensen; B Wolf
Journal:  Braz J Med Biol Res       Date:  2004-03-03       Impact factor: 2.590
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  4 in total

1.  Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.

Authors:  Erin T Strovel; Tina M Cowan; Anna I Scott; Barry Wolf
Journal:  Genet Med       Date:  2017-07-05       Impact factor: 8.822

2.  Subacute Myelopathy: Think Beyond Neuromyelitis Optica Spectrum Disorder.

Authors:  Ananthanarayanan Kasinathan; Renu Suthar; Sameer Vyas; Arushi Gahlot Saini; Naveen Sankhyan; Savita Attri
Journal:  Ann Indian Acad Neurol       Date:  2019-10-25       Impact factor: 1.383

Review 3.  Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

Authors:  Ebru Canda; Sema Kalkan Uçar; Mahmut Çoker
Journal:  Pediatric Health Med Ther       Date:  2020-05-04

4.  Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.

Authors:  Géraldine Van Winckel; Diana Ballhausen; Barry Wolf; Melinda Procter; Rong Mao; Patricie Burda; Davide Strambo; Thierry Kuntzer; Christel Tran
Journal:  Front Neurol       Date:  2020-10-26       Impact factor: 4.003
  4 in total

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