Literature DB >> 27017192

Once again, rare diseases provide a spotlight.

Tamanna Roshan Lal1, Daniel K Borger1, Ellen Sidransky2.   

Abstract

Entities:  

Keywords:  Gaucher disease; Lysolipids; Monoclonal gammopathy; Multiple myeloma

Mesh:

Substances:

Year:  2016        PMID: 27017192      PMCID: PMC5446090          DOI: 10.1016/j.ymgme.2016.03.002

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


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  13 in total

1.  Enzyme replacement therapy decreases hypergammaglobulinemia in Gaucher's disease.

Authors:  J Deibener; P Kaminsky; C Jacob; B Dousset; M Klein; M Duc
Journal:  Haematologica       Date:  1998-05       Impact factor: 9.941

2.  Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.

Authors:  Pramod K Mistry; Elena Lukina; Hadhami Ben Turkia; Dominick Amato; Hagit Baris; Majed Dasouki; Marwan Ghosn; Atul Mehta; Seymour Packman; Gregory Pastores; Milan Petakov; Sarit Assouline; Manisha Balwani; Sumita Danda; Evgueniy Hadjiev; Andres Ortega; Suma Shankar; Maria Helena Solano; Leorah Ross; Jennifer Angell; M Judith Peterschmitt
Journal:  JAMA       Date:  2015-02-17       Impact factor: 56.272

3.  Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.

Authors:  Nick Dekker; Laura van Dussen; Carla E M Hollak; Herman Overkleeft; Saskia Scheij; Karen Ghauharali; Mariëlle J van Breemen; Maria J Ferraz; Johanna E M Groener; Mario Maas; Frits A Wijburg; Dave Speijer; Anna Tylki-Szymanska; Pramod K Mistry; Rolf G Boot; Johannes M Aerts
Journal:  Blood       Date:  2011-08-25       Impact factor: 22.113

Review 4.  Heterozygosity for a Mendelian disorder as a risk factor for complex disease.

Authors:  E Sidransky
Journal:  Clin Genet       Date:  2006-10       Impact factor: 4.438

5.  Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma.

Authors:  Shiny Nair; Andrew R Branagan; Jun Liu; Chandra Sekhar Boddupalli; Pramod K Mistry; Madhav V Dhodapkar
Journal:  N Engl J Med       Date:  2016-02-11       Impact factor: 91.245

Review 6.  Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.

Authors:  Maarten Arends; Laura van Dussen; Marieke Biegstraaten; Carla E M Hollak
Journal:  Br J Haematol       Date:  2013-04-18       Impact factor: 6.998

Review 7.  Glucocerebrosidase is shaking up the synucleinopathies.

Authors:  Marina Siebert; Ellen Sidransky; Wendy Westbroek
Journal:  Brain       Date:  2014-02-14       Impact factor: 13.501

8.  Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher Disease who were never treated with enzyme replacement therapy.

Authors:  Neal J Weinreb; Robert E Lee
Journal:  Crit Rev Oncog       Date:  2013

Review 9.  Gaucher disease and myeloma.

Authors:  Robert Ayto; Derralynn A Hughes
Journal:  Crit Rev Oncog       Date:  2013

Review 10.  Gaucher disease and comorbidities: B-cell malignancy and parkinsonism.

Authors:  Timothy M Cox; Barry E Rosenbloom; Roger A Barker
Journal:  Am J Hematol       Date:  2015-07       Impact factor: 10.047

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