Literature DB >> 8001986

Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.

H Cole1, S Weremowicz, C C Morton, B Wolf.   

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Year:  1994        PMID： 8001986     DOI： 10.1006/geno.1994.1449

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  8 in total

1.  Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Authors:  Rachel C Wiltink; Michelle E Kruijshaar; Rick van Minkelen; Willem Onkenhout; Frans W Verheijen; Evelien A Kemper; Francjan J van Spronsen; Ans T van der Ploeg; Klary E Niezen-Koning; Jasper J Saris; Monique Williams
Journal:  Eur J Hum Genet       Date:  2016-06-22       Impact factor: 4.246

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

Authors:  Ilona Milánkovics; Krisztina Németh; Csilla Somogyi; Agnes Schuler; György Fekete
Journal:  J Inherit Metab Dis       Date:  2010-06-15       Impact factor: 4.982

3.  [Associated diseases and differential diagnostic considerations in childhood atopic eczema].

Authors:  C Jenneck; R Foelster-Holst; T Hagemann; N Novak
Journal:  Hautarzt       Date:  2007-02       Impact factor: 0.751

4.  Structure of the human biotinidase gene.

Authors:  H C Knight; T R Reynolds; G A Meyers; R J Pomponio; G A Buck; B Wolf
Journal:  Mamm Genome       Date:  1998-04       Impact factor: 2.957

5.  Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Authors:  Aleksandra Jezela-Stanek; Lidia Suchoń; Agnieszka Sobczyńska-Tomaszewska; Kamila Czerska; Katarzyna Kuśmierska; Joanna Taybert; Mariusz Ołtarzewski; Jolanta Sykut-Cegielska
Journal:  Genes (Basel)       Date:  2022-04-29       Impact factor: 4.141

6.  Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.

Authors:  Ankur Singh; Avinash Lomash; Sanjeev Pandey; Seema Kapoor
Journal:  J Clin Diagn Res       Date:  2015-12-01

7.  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

8.  Biotinidase Deficiency: New Directions and Practical Concerns.

Authors:  Barry Wolf
Journal:  Curr Treat Options Neurol       Date:  2003-07       Impact factor: 3.972
  8 in total

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