Literature DB >> 21410388

Patient organizations and research on rare diseases.

Julie R Ingelfinger, Jeffrey M Drazen.   

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Year:  2011        PMID： 21410388     DOI： 10.1056/NEJMe1102290

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  11 in total

1.  Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Authors:  G Costain; E W C Chow; P N Ray; A S Bassett
Journal:  J Intellect Disabil Res       Date:  2011-12-06

2.  Improving the diagnosis and treatment of CRPS: insights from a clinical immunologist's personal experience with an underrecognized neuroinflammatory disorder.

Authors:  Karen E Binkley
Journal:  J Neuroimmune Pharmacol       Date:  2012-05-16       Impact factor: 4.147

3.  Sorafenib for Advanced and Refractory Desmoid Tumors.

Authors:  Mrinal M Gounder; Michelle R Mahoney; Brian A Van Tine; Vinod Ravi; Steven Attia; Hari A Deshpande; Abha A Gupta; Mohammed M Milhem; Robert M Conry; Sujana Movva; Michael J Pishvaian; Richard F Riedel; Tarek Sabagh; William D Tap; Natally Horvat; Ethan Basch; Lawrence H Schwartz; Robert G Maki; Narasimhan P Agaram; Robert A Lefkowitz; Yousef Mazaheri; Rikiya Yamashita; John J Wright; Amylou C Dueck; Gary K Schwartz
Journal:  N Engl J Med       Date:  2018-12-20       Impact factor: 91.245

4.  Alkaptonuria: leading to the treasure in exceptions.

Authors:  Timothy M Cox
Journal:  JIMD Rep       Date:  2011-12-06

Review 5.  Lymphangioleiomyomatosis: A Monogenic Model of Malignancy.

Authors:  Vera P Krymskaya; Francis X McCormack
Journal:  Annu Rev Med       Date:  2017-01-14       Impact factor: 13.739

Review 6.  Rare inherited kidney diseases: challenges, opportunities, and perspectives.

Authors:  Olivier Devuyst; Nine V A M Knoers; Giuseppe Remuzzi; Franz Schaefer
Journal:  Lancet       Date:  2014-05-24       Impact factor: 79.321

Review 7.  Making connections: using telehealth to improve the diagnosis and treatment of Complex Regional Pain Syndrome, an underrecognized neuroinflammatory disorder.

Authors:  Joanna G Katzman
Journal:  J Neuroimmune Pharmacol       Date:  2012-10-02       Impact factor: 4.147

8.  Commentary on Vickers.

Authors:  Michael S Lauer
Journal:  Clin Trials       Date:  2014-12       Impact factor: 2.486

Review 9.  Novel molecular pathways in Gorham disease: implications for treatment.

Authors:  Jeroen Hagendoorn; Torunn I Yock; Inne H M Borel Rinkes; Timothy P Padera; David H Ebb
Journal:  Pediatr Blood Cancer       Date:  2013-11-08       Impact factor: 3.167

10.  Implementing core outcomes in kidney disease: report of the Standardized Outcomes in Nephrology (SONG) implementation workshop.

Authors:  Allison Tong; Braden Manns; Angela Yee Moon Wang; Brenda Hemmelgarn; David C Wheeler; John Gill; Peter Tugwell; Robert Pecoits-Filho; Sally Crowe; Tess Harris; Wim Van Biesen; Wolfgang C Winkelmayer; Adeera Levin; Aliza Thompson; Vlado Perkovic; Angela Ju; Talia Gutman; Amelie Bernier-Jean; Andrea K Viecelli; Emma O'Lone; Jenny Shen; Michelle A Josephson; Yeoungjee Cho; David W Johnson; Bénédicte Sautenet; Marcello Tonelli; Jonathan C Craig
Journal:  Kidney Int       Date:  2018-10-22       Impact factor: 10.612
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