Literature DB >> 27652781

Perspective: The rare must become common.

Marc C Patterson1.   

Abstract

Year:  2016        PMID： 27652781     DOI： 10.1038/537S151a

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  5 in total

Review 1.  Genetic Carrier Screening in the Twenty-first Century.

Authors:  Ruofan Yao; Katherine R Goetzinger
Journal:  Clin Lab Med       Date:  2016-03-05       Impact factor: 1.935

Review 2.  Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.

Authors:  Raelia M Lew; Leslie Burnett; Anné L Proos; Kristine Barlow-Stewart; Martin B Delatycki; Agnes Bankier; Harry Aizenberg; Michael J Field; Yemima Berman; Ronald Fleischer; Michael Fietz
Journal:  J Paediatr Child Health       Date:  2014-06-13       Impact factor: 1.954

3.  'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases.

Authors:  Machtelt G Bouwman; Quirine G A Teunissen; Frits A Wijburg; Gabor E Linthorst
Journal:  Arch Dis Child       Date:  2010-04-23       Impact factor: 3.791

Review 4.  Fabry disease-often seen, rarely diagnosed.

Authors:  Björn Hoffmann; Ertan Mayatepek
Journal:  Dtsch Arztebl Int       Date:  2009-06-26       Impact factor: 5.594

5.  Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Authors:  Miriam Stampfer; Susanne Theiss; Yasmina Amraoui; Xuntian Jiang; Sigrid Keller; Daniel S Ory; Eugen Mengel; Christine Fischer; Heiko Runz
Journal:  Orphanet J Rare Dis       Date:  2013-02-22       Impact factor: 4.123
  5 in total
  1 in total

Review 1.  Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.

Authors:  Melani Solomon; Silvia Muro
Journal:  Adv Drug Deliv Rev       Date:  2017-05-11       Impact factor: 15.470
  1 in total

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