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Items: 1 to 20 of 50

1.

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.

Whiteman DA, Kimura A.

Drug Des Devel Ther. 2017 Aug 23;11:2467-2480. doi: 10.2147/DDDT.S139601. eCollection 2017. Review.

2.
3.

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL).

Annemans L, Aymé S, Le Cam Y, Facey K, Gunther P, Nicod E, Reni M, Roux JL, Schlander M, Taylor D, Tomino C, Torrent-Farnell J, Upadhyaya S, Hutchings A, Le Dez L.

Orphanet J Rare Dis. 2017 Mar 10;12(1):50. doi: 10.1186/s13023-017-0601-9.

4.

A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.

Bell S, Peng H, Crapper L, Kolobova I, Maussion G, Vasuta C, Yerko V, Wong TP, Ernst C.

Stem Cells Transl Med. 2017 Mar;6(3):886-896. doi: 10.1002/sctm.16-0158. Epub 2016 Dec 1.

5.

The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseases.

Javaid MK, Forestier-Zhang L, Watts L, Turner A, Ponte C, Teare H, Gray D, Gray N, Popert R, Hogg J, Barrett J, Pinedo-Villanueva R, Cooper C, Eastell R, Bishop N, Luqmani R, Wordsworth P, Kaye J.

Orphanet J Rare Dis. 2016 Nov 8;11(1):150.

6.

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

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ.

BMC Fam Pract. 2016 Jul 21;17:88. doi: 10.1186/s12875-016-0488-x.

7.

Making Every Subject Count: A Case Study of Drug Development Path for Medication in a Pediatric Rare Disease.

Bhattacharya I, Manukyan Z, Chan P, Harnisch L, Heatherington A.

Clin Pharmacol Ther. 2016 Oct;100(4):330-2. doi: 10.1002/cpt.417. Epub 2016 Aug 22.

8.

Changing the Paradigm for the Treatment and Development of New Therapies for FSGS.

Spino C, Jahnke JS, Selewski DT, Massengill S, Troost J, Gipson DS.

Front Pediatr. 2016 Mar 23;4:25. doi: 10.3389/fped.2016.00025. eCollection 2016.

9.

Orphan diseases: state of the drug discovery art.

Volmar CH, Wahlestedt C, Brothers SP.

Wien Med Wochenschr. 2017 Jun;167(9-10):197-204. doi: 10.1007/s10354-015-0423-0. Epub 2016 Jan 27.

PMID:
26819216
10.

The involvement of patient organisations in rare disease research: a mixed methods study in Australia.

Pinto D, Martin D, Chenhall R.

Orphanet J Rare Dis. 2016 Jan 12;11:2. doi: 10.1186/s13023-016-0382-6.

11.

A small n sequential multiple assignment randomized trial design for use in rare disease research.

Tamura RN, Krischer JP, Pagnoux C, Micheletti R, Grayson PC, Chen YF, Merkel PA.

Contemp Clin Trials. 2016 Jan;46:48-51. doi: 10.1016/j.cct.2015.11.010. Epub 2015 Nov 14.

12.

Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome).

Mumford RA, Mahon LV, Jones S, Bigger B, Canal M, Hare DJ.

J Neurodev Disord. 2015;7(1):31. doi: 10.1186/s11689-015-9126-5. Epub 2015 Sep 1.

13.

Genomic Variants Revealed by Invariably Missing Genotypes in Nelore Cattle.

da Silva JM, Giachetto PF, da Silva LO, Cintra LC, Paiva SR, Caetano AR, Yamagishi ME.

PLoS One. 2015 Aug 25;10(8):e0136035. doi: 10.1371/journal.pone.0136035. eCollection 2015.

14.

Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials.

Vrinten C, Lipka AF, van Zwet EW, Schimmel KJ, Cornel MC, Kuijpers MR, Hekster YA, Weinreich SS, Verschuuren JJ.

BMJ Open. 2015 Jul 16;5(7):e007863. doi: 10.1136/bmjopen-2015-007863.

15.

Institutional Board Review for Clinical Investigations on Inflammatory Bowel Diseases: A Single-Center Study.

Park S, Noh YH, Rha SY, Kim WH, Cheon JH.

Intest Res. 2015 Jul;13(3):274-81. doi: 10.5217/ir.2015.13.3.274. Epub 2015 Jun 9.

16.

Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project.

Darquy S, Moutel G, Lapointe AS, D'Audiffret D, Champagnat J, Guerroui S, Vendeville ML, Boespflug-Tanguy O, Duchange N.

Eur J Hum Genet. 2016 Mar;24(3):338-43. doi: 10.1038/ejhg.2015.115. Epub 2015 Jun 17.

17.

Coverage of rare disease names in standard terminologies and implications for patients, providers, and research.

Fung KW, Richesson R, Bodenreider O.

AMIA Annu Symp Proc. 2014 Nov 14;2014:564-72. eCollection 2014.

18.

Innovation by patients with rare diseases and chronic needs.

Oliveira P, Zejnilovic L, Canhão H, von Hippel E.

Orphanet J Rare Dis. 2015 Apr 9;10:41. doi: 10.1186/s13023-015-0257-2.

19.

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, Potter BK; Canadian Inherited Metabolic Diseases Research Network.

BMC Pediatr. 2015 Feb 13;15:7. doi: 10.1186/s12887-015-0323-x. Review.

20.

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.

Stunnenberg BC, Woertman W, Raaphorst J, Statland JM, Griggs RC, Timmermans J, Saris CG, Schouwenberg BJ, Groenewoud HM, Stegeman DF, van Engelen BG, Drost G, van der Wilt GJ.

BMC Neurol. 2015 Mar 25;15:43. doi: 10.1186/s12883-015-0294-4.

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