Literature DB >> 8739967

Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation.

A B Burlina1, M Dermikol, A Mantau, S Piovan, L Grazian, F Zacchello, Y Shin.   

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Year:  1996        PMID： 8739967     DOI： 10.1007/bf01799431

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Diagnosis of glycogen storage disease.

Authors:  Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Neonatal screening for biotinidase deficiency in north eastern Italy.

Authors:  A B Burlina; W G Sherwood; M V Marchioro; B D Bernardina; D Gaburro
Journal:  Eur J Pediatr       Date:  1988-04       Impact factor: 3.183

3.  Molecular pathology of glucose-6-phosphatase.

Authors:  A Burchell
Journal:  FASEB J       Date:  1990-09       Impact factor: 5.191

4.  A screening method for biotinidase deficiency in newborns.

Authors:  G S Heard; J R Secor McVoy; B Wolf
Journal:  Clin Chem       Date:  1984-01       Impact factor: 8.327
  4 in total
  7 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.  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

Review 6.  Biomarkers in Glycogen Storage Diseases: An Update.

Authors:  Alberto Molares-Vila; Alberte Corbalán-Rivas; Miguel Carnero-Gregorio; José Luís González-Cespón; Carmen Rodríguez-Cerdeira
Journal:  Int J Mol Sci       Date:  2021-04-22       Impact factor: 5.923

7.  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
  7 in total

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