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Items: 1 to 20 of 943


Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

McGovern MM, Avetisyan R, Sanson BJ, Lidove O.

Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. Review.


Interferon β-1a for the treatment of Ebola virus disease: A historically controlled, single-arm proof-of-concept trial.

Konde MK, Baker DP, Traore FA, Sow MS, Camara A, Barry AA, Mara D, Barry A, Cone M, Kaba I, Richard AA, Beavogui AH, Günther S; European Mobile Laboratory Consortium., Pintilie M, Fish EN.

PLoS One. 2017 Feb 22;12(2):e0169255. doi: 10.1371/journal.pone.0169255.


A new framework for evaluating the health impacts of treatment for Gaucher disease type 1.

Ganz ML, Stern S, Ward A, Nalysnyk L, Selzer M, Hamed A, Weinreb N.

Orphanet J Rare Dis. 2017 Feb 20;12(1):38. doi: 10.1186/s13023-017-0592-6.


Cost-Utility of First-Line Disease-Modifying Treatments for Relapsing-Remitting Multiple Sclerosis.

Soini E, Joutseno J, Sumelahti ML.

Clin Ther. 2017 Feb 13. pii: S0149-2918(17)30074-7. doi: 10.1016/j.clinthera.2017.01.028. [Epub ahead of print]


Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group.

Rusconi P, Wilkinson JD, Sleeper LA, Lu M, Cox GF, Towbin JA, Colan SD, Webber SA, Canter CE, Ware SM, Hsu DT, Chung WK, Jefferies JL, Cordero C, Lipshultz SE; Pediatric Cardiomyopathy Registry Investigators..

Circ Heart Fail. 2017 Feb;10(2). pii: e002637. doi: 10.1161/CIRCHEARTFAILURE.115.002637.


Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

Jones SA, Rojas-Caro S, Quinn AG, Friedman M, Marulkar S, Ezgu F, Zaki O, Gargus JJ, Hughes J, Plantaz D, Vara R, Eckert S, Arnoux JB, Brassier A, Le Quan Sang KH, Valayannopoulos V.

Orphanet J Rare Dis. 2017 Feb 8;12(1):25. doi: 10.1186/s13023-017-0587-3.


Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJ, Tayag R, Peterschmitt MJ.

Blood. 2017 Feb 6. pii: blood-2016-12-758409. doi: 10.1182/blood-2016-12-758409. [Epub ahead of print]


Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.

Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T.

Hum Mol Genet. 2017 Feb 2. doi: 10.1093/hmg/ddx032. [Epub ahead of print] No abstract available.


Drug-Development Challenges for Small Biopharmaceutical Companies.

Moscicki RA, Tandon PK.

N Engl J Med. 2017 Feb 2;376(5):469-474. doi: 10.1056/NEJMra1510070. Review. No abstract available.


A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration.

Judith Peterschmitt M, Cox GF, Ibrahim J, MacDougall J, Underhill LH, Patel P, Gaemers SJ.

Blood Cells Mol Dis. 2017 Jan 13. pii: S1079-9796(17)30025-6. doi: 10.1016/j.bcmd.2017.01.006. [Epub ahead of print]


Effectiveness and Tolerability of Colesevelam HCl for Accelerated Elimination of Teriflunomide in Healthy Participants.

Lunven C, Guo Z, Turpault S, Delfolie A, Fauchoux N, Turner T, Baldinetti F.

J Clin Pharmacol. 2017 Jan 25. doi: 10.1002/jcph.854. [Epub ahead of print] No abstract available.


Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.

Giugliani R, Vieira TA, Carvalho CG, Muñoz-Rojas MV, Semyachkina AN, Voinova VY, Richards S, Cox GF, Xue Y.

Mol Genet Metab Rep. 2017 Jan 13;10:61-66. doi: 10.1016/j.ymgmr.2017.01.004.


On an enhanced rank-preserving structural failure time model to handle treatment switch, crossover, and dropout.

Li L, Tang S, Jiang L.

Stat Med. 2017 Jan 22. doi: 10.1002/sim.7224. [Epub ahead of print]


CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10.

Ruan GX, Barry E, Yu D, Lukason M, Cheng SH, Scaria A.

Mol Ther. 2017 Feb 1;25(2):331-341. doi: 10.1016/j.ymthe.2016.12.006.


155R is a novel structural protein of bovine adenovirus type 3, but it is not essential for virus replication.

Hassan AO, Vemula SV, Sharma A, Bangari DS, Mishra KK, Mittal SK.

J Gen Virol. 2017 Jan 12. doi: 10.1099/jgv.0.000707. [Epub ahead of print]


Approaches to Mitigate the Unwanted Immunogenicity of Therapeutic Proteins during Drug Development.

Salazar-Fontana LI, Desai DD, Khan TA, Pillutla RC, Prior S, Ramakrishnan R, Schneider J, Joseph A.

AAPS J. 2017 Jan 12. doi: 10.1208/s12248-016-0030-z. [Epub ahead of print]


Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.

El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):47-56. doi: 10.1016/j.ymgme.2016.12.001.


Phase I/II trial of cabazitaxel plus abiraterone in patients with metastatic castration-resistant prostate cancer (mCRPC) progressing after docetaxel and abiraterone.

Massard C, Mateo J, Loriot Y, Pezaro C, Albiges L, Mehra N, Varga A, Bianchini D, Ryan CJ, Petrylak DP, Attard G, Shen L, Fizazi K, de Bono J.

Ann Oncol. 2016 Oct 18. pii: mdw441. doi: 10.1093/annonc/mdw441. [Epub ahead of print]


Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease.

Murugesan V, Liu J, Yang R, Lin H, Lischuk A, Pastores G, Zhang X, Chuang WL, Mistry PK.

Blood Cells Mol Dis. 2016 Dec 13. pii: S1079-9796(16)30239-X. doi: 10.1016/j.bcmd.2016.12.002. [Epub ahead of print]


Amplifying Each Patient's Voice: A Systematic Review of Multi-criteria Decision Analyses Involving Patients.

Marsh K, Caro JJ, Hamed A, Zaiser E.

Appl Health Econ Health Policy. 2016 Dec 7. [Epub ahead of print] Review.

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