Literature DB >> 2311264

Low biotinidase activities in the sera of patients with impaired liver function: evidence that the liver is the source of serum biotinidase.

R E Grier1, G S Heard, P Watkins, B Wolf.   

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Year:  1990        PMID： 2311264     DOI： 10.1016/0009-8981(90)90326-n

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  6 in total

1.  Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.

Authors:  Celia J Angaroni; Alicia N Giner-Ayala; Lorena P Hill; Norberto B Guelbert; Ana E Paschini-Capra; Raquel Dodelson de Kremer
Journal:  J Inherit Metab Dis       Date:  2010-06-08       Impact factor: 4.982

2.  Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

Authors:  P Paesold-Burda; M R Baumgartner; R Santer; N U Bosshard; B Steinmann
Journal:  J Inherit Metab Dis       Date:  2007-11-12       Impact factor: 4.982

3.  Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.

Authors:  M Kimura; T Fukui; Y Tagami; T Fujiwaki; M Yokoyama; C Ishioka; K Kumasaka; N Terada; S Yamaguchi
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

4.  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

5.  Biotin IgM antibodies in human blood: a previously unknown factor eliciting false results in biotinylation-based immunoassays.

Authors:  Tingting Chen; Lea Hedman; Petri S Mattila; Laura Jartti; Tuomas Jartti; Olli Ruuskanen; Maria Söderlund-Venermo; Klaus Hedman
Journal:  PLoS One       Date:  2012-08-03       Impact factor: 3.240

6.  Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Authors:  Areeg El-Gharbawy; Adviye A Tolun; Carine A Halaby; Stephanie L Austin; Priya S Kishnani; Deeksha S Bali
Journal:  Mol Genet Metab Rep       Date:  2022-02-28
  6 in total

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