Literature DB >> 17878426

Carrier screening for Gaucher disease: more harm than good?

Ernest Beutler.   

Abstract

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Year:  2007        PMID： 17878426     DOI： 10.1001/jama.298.11.1329

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  4 in total

1.  Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

Authors:  Manisha Balwani; Laura Fuerstman; Ruth Kornreich; Lisa Edelmann; Robert J Desnick
Journal:  Arch Intern Med       Date:  2010-09-13

2.  Taxonomizing, sizing, and overcoming the incidentalome.

Authors:  Isaac S Kohane; Michael Hsing; Sek Won Kong
Journal:  Genet Med       Date:  2012-02-09       Impact factor: 8.822

3.  Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.

Authors:  Amy C Yang; Louise Bier; Jessica R Overbey; Jessica Cohen-Pfeffer; Khyati Desai; Robert J Desnick; Manisha Balwani
Journal:  Genet Med       Date:  2016-10-13       Impact factor: 8.822

4.  Adult Gaucher disease in southern Tunisia: report of three cases.

Authors:  Faten Ben Rhouma; Faten Kallel; Rym Kefi; Wafa Cherif; Majdi Nagara; Hela Azaiez; Ines Jedidi; Moez Elloumi; Sonia Abdelhak; Sondes Mseddi
Journal:  Diagn Pathol       Date:  2012-01-10       Impact factor: 2.644
  4 in total

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