Literature DB >> 16179423

Immunoquantification of beta-glucosidase: diagnosis and prediction of severity in Gaucher disease.

Maria Fuller1, Melanie Lovejoy, John J Hopwood, Peter J Meikle.   

Abstract

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Year:  2005        PMID： 16179423     DOI： 10.1373/clinchem.2005.053538

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  4 in total

1.  Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

Authors:  Jie Lu; Jeffrey Chiang; Rajiv R Iyer; Eli Thompson; Christine R Kaneski; David S Xu; Chunzhang Yang; Masako Chen; Richard J Hodes; Russell R Lonser; Roscoe O Brady; Zhengping Zhuang
Journal:  Proc Natl Acad Sci U S A       Date:  2010-11-22       Impact factor: 11.205

Review 2.  Newborn Screening for Lysosomal Storage Disorders.

Authors:  Roy W A Peake; Olaf A Bodamer
Journal:  J Pediatr Genet       Date:  2016-12-02

Review 3.  Newborn screening for lysosomal storage diseases.

Authors:  Michael H Gelb; C Ronald Scott; Frantisek Turecek
Journal:  Clin Chem       Date:  2014-12-04       Impact factor: 8.327

4.  Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.

Authors:  Massimo Aureli; Rosaria Bassi; Nicoletta Loberto; Stefano Regis; Alessandro Prinetti; Vanna Chigorno; Johannes M Aerts; Rolf G Boot; Mirella Filocamo; Sandro Sonnino
Journal:  J Inherit Metab Dis       Date:  2012-04-19       Impact factor: 4.982
  4 in total

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