Literature DB >> 10950092

High biotinidase activity in type Ia glycogen storage disease.

I N Saltik, H Ozen, N Koçak, A Yüce, F Gürakan.   

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Year:  2000        PMID： 10950092     DOI： 10.1111/j.1572-0241.2000.02222.x

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN： 0002-9270            Impact factor:   10.864


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  5 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.  Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.

Authors:  B Wolf; C L Freehauf; J A Thomas; P L Gordon; C L Greene; J C Ward
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 4.  Glycogen storage diseases: new perspectives.

Authors:  Hasan Ozen
Journal:  World J Gastroenterol       Date:  2007-05-14       Impact factor: 5.742

5.  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
  5 in total

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