Literature DB >> 22690027

Coming together to combat rare diseases.

Gary Humphreys.   

Abstract

The European Commission is increasingly supporting collaborative initiatives focused on research into treatments and drugs for rare diseases, but lack of funding continues to be an issue.

Mesh：

Year:  2012        PMID： 22690027      PMCID： PMC3370370          DOI： 10.2471/BLT.12.020612

Source DB:  PubMed          Journal:  Bull World Health Organ        ISSN： 0042-9686            Impact factor:   9.408


  3 in total

1.  Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

Authors:  Sara D Khangura; Kylie Tingley; Pranesh Chakraborty; Doug Coyle; Jonathan B Kronick; Anne-Marie Laberge; Julian Little; Fiona A Miller; John J Mitchell; Chitra Prasad; Shabnaz Siddiq; Komudi Siriwardena; Rebecca Sparkes; Kathy N Speechley; Sylvia Stockler; Yannis Trakadis; Brenda J Wilson; Kumanan Wilson; Beth K Potter
Journal:  J Inherit Metab Dis       Date:  2015-07-25       Impact factor: 4.982

2.  Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.

Authors:  Vikas Bansal; Cornelia Dorn; Marcel Grunert; Sabine Klaassen; Roland Hetzer; Felix Berger; Silke R Sperling
Journal:  PLoS One       Date:  2014-01-06       Impact factor: 3.240

3.  Education and information needs for physicians about rare diseases in Spain.

Authors:  Enrique Ramalle-Gómara; Elena Domínguez-Garrido; María Gómez-Eguílaz; María Eugenia Marzo-Sola; José Luis Ramón-Trapero; Josefa Gil-de-Gómez
Journal:  Orphanet J Rare Dis       Date:  2020-01-17       Impact factor: 4.123
  3 in total

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