Literature DB >> 8317294

Gaucher disease. Enzymology, genetics, and treatment.

G A Grabowski1.   

Abstract

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Year:  1993        PMID： 8317294

Source DB:  PubMed          Journal:  Adv Hum Genet        ISSN： 0065-275X


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  28 in total

1.  Intravenous bisphosphonate treatment and pregnancy: its effects on mother and infant bone health.

Authors:  S R Mastaglia; N P Watman; B Oliveri
Journal:  Osteoporos Int       Date:  2010-06-10       Impact factor: 4.507

2.  Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S.

Authors:  Marc N Offman; Marcin Krol; Israel Silman; Joel L Sussman; Anthony H Futerman
Journal:  J Biol Chem       Date:  2010-10-27       Impact factor: 5.157

3.  Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase.

Authors:  Samarjit Patnaik; Wei Zheng; Jae H Choi; Omid Motabar; Noel Southall; Wendy Westbroek; Wendy A Lea; Arash Velayati; Ehud Goldin; Ellen Sidransky; William Leister; Juan J Marugan
Journal:  J Med Chem       Date:  2012-06-08       Impact factor: 7.446

Review 4.  Ashkenazi Jewish genetic disorders.

Authors:  Joel Charrow
Journal:  Fam Cancer       Date:  2004       Impact factor: 2.375

5.  The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms.

Authors:  Richard A Steet; Stephen Chung; Brandon Wustman; Allan Powe; Hung Do; Stuart A Kornfeld
Journal:  Proc Natl Acad Sci U S A       Date:  2006-08-31       Impact factor: 11.205

6.  Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention.

Authors:  Zhanqian Yu; Anu R Sawkar; Lisa J Whalen; Chi-Huey Wong; Jeffery W Kelly
Journal:  J Med Chem       Date:  2007-01-11       Impact factor: 7.446

7.  The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study.

Authors:  A M Damiano; G M Pastores; J E Ware
Journal:  Qual Life Res       Date:  1998-07       Impact factor: 4.147

8.  Demographic Studies from a National Gaucher Disease Screening Program.

Authors:  D M Gagnon; E Pergament; B A Fine
Journal:  J Genet Couns       Date:  1998-10       Impact factor: 2.537

9.  Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase.

Authors:  Richard Steet; Stephen Chung; Wang-Sik Lee; Corey W Pine; Hung Do; Stuart Kornfeld
Journal:  Biochem Pharmacol       Date:  2006-12-15       Impact factor: 5.858

10.  Gaucher Disease in Two Siblings.

Authors:  A Devgan; A Saxena; R K Thapar; A K Dubey
Journal:  Med J Armed Forces India       Date:  2011-07-21
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