Literature DB >> 11998918

Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.

Barry Wolf.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 11998918     DOI： 10.1007/s00431-001-0902-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


× No keyword cloud information.
  4 in total

1.  Profound biotinidase deficiency in two asymptomatic adults.

Authors:  B Wolf; K Norrgard; R J Pomponio; D M Mock; J R McVoy; K Fleischhauer; S Shapiro; M G Blitzer; J Hymes
Journal:  Am J Med Genet       Date:  1997-11-28

2.  Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.

Authors:  D Möslinger; S Stöckler-Ipsiroglu; S Scheibenreiter; M Tiefenthaler; A Mühl; R Seidl; W Strobl; B Plecko; T Suormala; E R Baumgartner
Journal:  Eur J Pediatr       Date:  2001-05       Impact factor: 3.183

3.  Delayed-onset profound biotinidase deficiency.

Authors:  B Wolf; R J Pomponio; K J Norrgard; I T Lott; E R Baumgartner; T Suormala; V T Ramaekers; T Coskun; A Tokatli; I Ozalp; J Hymes
Journal:  J Pediatr       Date:  1998-02       Impact factor: 4.406

4.  Phenotypic variation in biotinidase deficiency.

Authors:  B Wolf; R E Grier; R J Allen; S I Goodman; C L Kien; W D Parker; D M Howell; D L Hurst
Journal:  J Pediatr       Date:  1983-08       Impact factor: 4.406
  4 in total
  3 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

Review 2.  Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

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

3.  The Biotinidase Gene Variants Registry: A Paradigm Public Database.

Authors:  Melinda Procter; Barry Wolf; David K Crockett; Rong Mao
Journal:  G3 (Bethesda)       Date:  2013-04-09       Impact factor: 3.154
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.