Literature DB >> 24794360

Research into rare diseases of childhood.

Mark L Batshaw1, Stephen C Groft2, Jeffrey P Krischer3.   

Abstract

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Year:  2014        PMID： 24794360      PMCID： PMC6441966          DOI： 10.1001/jama.2013.285873

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


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  7 in total

1.  On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases.

Authors:  Marshall L Summar; Fumio Endo; Stefan Kölker
Journal:  Mol Genet Metab       Date:  2014 Sep-Oct       Impact factor: 4.797

2.  Noninvasive prenatal testing in China: Future detection of rare genetic diseases?

Authors:  Lin Mei; Qi Tang; Baiyu Sun; Lingzhong Xu
Journal:  Intractable Rare Dis Res       Date:  2014-08

Review 3.  Fair pricing of "old" orphan drugs: considerations for Canada's orphan drug policy.

Authors:  Eve A Roberts; Matthew Herder; Aidan Hollis
Journal:  CMAJ       Date:  2015-02-23       Impact factor: 8.262

4.  The supportive care needs of parents with a child with a rare disease: results of an online survey.

Authors:  Lemuel J Pelentsov; Andrea L Fielder; Thomas A Laws; Adrian J Esterman
Journal:  BMC Fam Pract       Date:  2016-07-21       Impact factor: 2.497

5.  Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.

Authors:  Reiko Shimizu; Katsuhisa Ogata; Akemi Tamaura; En Kimura; Maki Ohata; Eri Takeshita; Harumasa Nakamura; Shin'ichi Takeda; Hirofumi Komaki
Journal:  BMC Health Serv Res       Date:  2016-07-11       Impact factor: 2.655

Review 6.  Being the Pillar for Children with Rare Diseases-A Systematic Review on Parental Quality of Life.

Authors:  Johannes Boettcher; Michael Boettcher; Silke Wiegand-Grefe; Holger Zapf
Journal:  Int J Environ Res Public Health       Date:  2021-05-08       Impact factor: 3.390

7.  Creating a multi-center rare disease consortium - the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR).

Authors:  Katherine Cheng; Sandeep K Gupta; Susanna Kantor; Jonathan T Kuhl; Seema S Aceves; Peter A Bonis; Kelley E Capocelli; Christina Carpenter; Mirna Chehade; Margaret H Collins; Evan S Dellon; Gary W Falk; Rashmi Gopal-Srivastava; Nirmala Gonsalves; Ikuo Hirano; Eileen C King; John Leung; Jeffrey P Krischer; Vincent A Mukkada; Alain Schoepfer; Jonathan M Spergel; Alex Straumann; Guang-Yu Yang; Glenn T Furuta; Marc E Rothenberg
Journal:  Transl Sci Rare Dis       Date:  2017-12-18
  7 in total

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