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Items: 1 to 50 of 392

1.

Value Assessment and Quantitative Benefit-Risk Modelling of Biosimilar Infliximab for Crohn's Disease.

Catt H, Bodger K, Kirkham JJ, Hughes DA.

Pharmacoeconomics. 2019 Aug 2. doi: 10.1007/s40273-019-00826-0. [Epub ahead of print]

PMID:
31372948
2.

Medicines Shortages in the United Kingdom.

Hughes DA.

Clin Pharmacol Ther. 2019 Jun 25. doi: 10.1002/cpt.1495. [Epub ahead of print] No abstract available.

PMID:
31237353
3.

Reply to: Retesting the influences of mutation accumulation and antagonistic pleiotropy on human senescence and disease.

Rodríguez JA, Farré X, Muntané G, Marigorta UM, Hughes DA, Spataro N, Bosch E, Navarro A.

Nat Ecol Evol. 2019 Jul;3(7):994-995. doi: 10.1038/s41559-019-0926-y. Epub 2019 Jun 24. No abstract available.

PMID:
31235924
4.

Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.

Avenali M, Toffoli M, Mullin S, McNeil A, Hughes DA, Mehta A, Blandini F, Schapira AHV.

J Neurol Neurosurg Psychiatry. 2019 Jun 20. pii: jnnp-2019-320394. doi: 10.1136/jnnp-2019-320394. [Epub ahead of print]

PMID:
31221723
5.

Assessment of reproducibility and biological variability of fasting and postprandial plasma metabolite concentrations using 1H NMR spectroscopy.

Li-Gao R, Hughes DA, le Cessie S, de Mutsert R, den Heijer M, Rosendaal FR, Willems van Dijk K, Timpson NJ, Mook-Kanamori DO.

PLoS One. 2019 Jun 20;14(6):e0218549. doi: 10.1371/journal.pone.0218549. eCollection 2019.

6.

A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice.

Vijapurapu R, Kozor R, Hughes DA, Woolfson P, Jovanovic A, Deegan P, Rusk R, Figtree GA, Tchan M, Whalley D, Kotecha D, Leyva F, Moon J, Geberhiwot T, Steeds RP.

Trials. 2019 May 31;20(1):314. doi: 10.1186/s13063-019-3425-1.

7.

Adalimumab in combination with methotrexate for refractory uveitis associated with juvenile idiopathic arthritis: a RCT.

Ramanan AV, Dick AD, Jones AP, Hughes DA, McKay A, Rosala-Hallas A, Williamson PR, Hardwick B, Hickey H, Rainford N, Hickey G, Kolamunnage-Dona R, Culeddu G, Plumpton C, Wood E, Compeyrot-Lacassagne S, Woo P, Edelsten C, Beresford MW.

Health Technol Assess. 2019 Apr;23(15):1-140. doi: 10.3310/hta23150.

8.

Integration of Pharmacometrics and Pharmacoeconomics to Quantify the Value of Improved Forgiveness to Nonadherence: A Case Study of Novel Xanthine Oxidase Inhibitors for Gout.

Hill-McManus D, Marshall S, Soto E, Hughes DA.

Clin Pharmacol Ther. 2019 Sep;106(3):652-660. doi: 10.1002/cpt.1454. Epub 2019 May 31.

PMID:
30993686
9.

Continuous subcutaneous insulin infusion versus multiple daily injection regimens in children and young people at diagnosis of type 1 diabetes: pragmatic randomised controlled trial and economic evaluation.

Blair JC, McKay A, Ridyard C, Thornborough K, Bedson E, Peak M, Didi M, Annan F, Gregory JW, Hughes DA, Gamble C; SCIPI investigators.

BMJ. 2019 Apr 3;365:l1226. doi: 10.1136/bmj.l1226.

10.

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.

Hughes DA, Nicholls K, Sunder-Plassmann G, Jovanovic A, Feldt-Rasmussen U, Schiffmann R, Giugliani R, Jain V, Viereck C, Castelli JP, Skuban N, Barth JA, Bichet DG.

Am J Med Genet A. 2019 Jun;179(6):1069-1073. doi: 10.1002/ajmg.a.61105. Epub 2019 Mar 28. No abstract available.

11.

Reply.

Hughes DA, Culeddu G, Plumpton C, Wood E, Dick AD, Beresford MW, Ramanan AV.

Ophthalmology. 2019 Mar;126(3):e24-e25. doi: 10.1016/j.ophtha.2018.12.005. No abstract available.

PMID:
30803529
12.

Coronary artery disease, genetic risk and the metabolome in young individuals.

Battram T, Hoskins L, Hughes DA, Kettunen J, Ring SM, Smith GD, Timpson NJ.

Version 2. Wellcome Open Res. 2019 Feb 1 [revised 2019 Jan 1];3:114. doi: 10.12688/wellcomeopenres.14788.2. eCollection 2018.

13.

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM, Colvin RB, Jennette JC, Skuban N, Castelli JP, Benjamin E, Barth JA, Viereck C.

Genet Med. 2019 Feb 6. doi: 10.1038/s41436-019-0451-z. [Epub ahead of print]

PMID:
30723321
14.

A roadmap for high-throughput sequencing studies of wild animal populations using noninvasive samples and hybridization capture.

White LC, Fontsere C, Lizano E, Hughes DA, Angedakin S, Arandjelovic M, Granjon AC, Hans JB, Lester JD, Rabanus-Wallace MT, Rowney C, Städele V, Marques-Bonet T, Langergraber KE, Vigilant L.

Mol Ecol Resour. 2019 May;19(3):609-622. doi: 10.1111/1755-0998.12993.

PMID:
30637963
15.

Cost-Effectiveness Analysis of the Use of Point-of-Care C-Reactive Protein Testing to Reduce Antibiotic Prescribing in Primary Care.

Holmes EAF, Harris SD, Hughes A, Craine N, Hughes DA.

Antibiotics (Basel). 2018 Dec 7;7(4). pii: E106. doi: 10.3390/antibiotics7040106.

16.

Cost-Effectiveness of Panel Tests for Multiple Pharmacogenes Associated With Adverse Drug Reactions: An Evaluation Framework.

Plumpton CO, Pirmohamed M, Hughes DA.

Clin Pharmacol Ther. 2019 Jun;105(6):1429-1438. doi: 10.1002/cpt.1312. Epub 2019 Jan 28.

PMID:
30466189
17.

Mapping ALSFRS-R and ALSUI to EQ-5D in Patients with Motor Neuron Disease.

Moore A, Young CA, Hughes DA.

Value Health. 2018 Nov;21(11):1322-1329. doi: 10.1016/j.jval.2018.05.005. Epub 2018 Jul 26.

PMID:
30442280
18.

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.

Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A.

Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Erratum in: Intern Med J. 2019 Aug;49(8):1059.

PMID:
30414226
19.

The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.

Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M.

Mol Genet Metab. 2019 Mar;126(3):224-235. doi: 10.1016/j.ymgme.2018.09.007. Epub 2018 Sep 27. Review.

20.

Cost-Effectiveness Analysis of Adalimumab for the Treatment of Uveitis Associated with Juvenile Idiopathic Arthritis.

Hughes DA, Culeddu G, Plumpton CO, Wood E, Dick AD, Jones AP, McKay A, Williamson PR, Compeyrot Lacassagne S, Hardwick B, Hickey H, Woo P, Beresford MW, Ramanan AV.

Ophthalmology. 2019 Mar;126(3):415-424. doi: 10.1016/j.ophtha.2018.09.043. Epub 2018 Oct 16.

PMID:
30336181
21.

Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease.

Vijapurapu R, Nordin S, Baig S, Liu B, Rosmini S, Augusto J, Tchan M, Hughes DA, Geberhiwot T, Moon JC, Steeds RP, Kozor R.

Heart. 2019 Mar;105(6):470-476. doi: 10.1136/heartjnl-2018-313699. Epub 2018 Oct 3.

PMID:
30282640
22.

Patient-Focused Drug Development Methods for Benefit-Risk Assessments: A Case Study Using a Discrete Choice Experiment for Antiepileptic Drugs.

Holmes EAF, Plumpton C, Baker GA, Jacoby A, Ring A, Williamson P, Marson A, Hughes DA.

Clin Pharmacol Ther. 2019 Mar;105(3):672-683. doi: 10.1002/cpt.1231. Epub 2018 Oct 25.

23.

Nerve root block versus surgery (NERVES) for the treatment of radicular pain secondary to a prolapsed intervertebral disc herniation: study protocol for a multi-centre randomised controlled trial.

Wilby MJ, Hopkins C, Bedson E, Howlin S, Burnside G, Conroy EJ, Hughes DA, Sharma M, Marson A, Clark SR, Williamson P.

Trials. 2018 Sep 5;19(1):475. doi: 10.1186/s13063-018-2677-5.

24.

Letter to the Editor. Phase III randomized controlled trials are essential to properly evaluate the role of radiotherapy in WHO grade II meningioma.

Jenkinson MD, Weber DC, Haylock BJ, Sherratt FC, Young B, Weller M, Bulbeck H, Culeddu G, Hughes DA, Brain A, Das K, Preusser M, Francis P, Gamble C.

J Neurosurg. 2018 Oct;129(4):1104-1105. doi: 10.3171/2018.6.JNS181418. Epub 2018 Aug 17. No abstract available.

25.

Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.

Reed MC, Bauernfreund Y, Cunningham N, Beaton B, Mehta AB, Hughes DA.

Gene. 2018 Dec 15;678:196-206. doi: 10.1016/j.gene.2018.08.045. Epub 2018 Aug 9.

PMID:
30099023
26.

Lessons learnt from a discontinued randomised controlled trial: adalimumab injection compared with placebo for patients receiving physiotherapy treatment for sciatica (Subcutaneous Injection of Adalimumab Trial compared with Control: SCIATiC).

Williams NH, Jenkins A, Goulden N, Hoare Z, Hughes DA, Wood E, Foster NE, Walsh D, Carnes D, Sparkes V, Hay EM, Isaacs J, Konstantinou K, Morrissey D, Karppinen J, Genevay S, Wilkinson C.

Trials. 2018 Jul 31;19(1):408. doi: 10.1186/s13063-018-2801-6.

27.

European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ.

Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review.

PMID:
30017653
28.

ESPACOMP Medication Adherence Reporting Guideline (EMERGE).

De Geest S, Zullig LL, Dunbar-Jacob J, Helmy R, Hughes DA, Wilson IB, Vrijens B.

Ann Intern Med. 2018 Jul 3;169(1):30-35. doi: 10.7326/M18-0543. Epub 2018 Jun 26.

PMID:
29946690
29.

Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease.

Reed MC, Schiffer C, Heales S, Mehta AB, Hughes DA.

Mol Genet Metab. 2018 Aug;124(4):278-286. doi: 10.1016/j.ymgme.2018.06.007. Epub 2018 Jun 14.

PMID:
29934064
30.

Gaucher Disease.

Pastores GM, Hughes DA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2000 Jul 27 [updated 2018 Jun 21].

31.

Core Items for a Standardized Resource Use Measure: Expert Delphi Consensus Survey.

Thorn JC, Brookes ST, Ridyard C, Riley R, Hughes DA, Wordsworth S, Noble SM, Thornton G, Hollingworth W.

Value Health. 2018 Jun;21(6):640-649. doi: 10.1016/j.jval.2017.06.011. Epub 2017 Sep 1.

32.

Biological Processes Modulating Longevity across Primates: A Phylogenetic Genome-Phenome Analysis.

Muntané G, Farré X, Rodríguez JA, Pegueroles C, Hughes DA, de Magalhães JP, Gabaldón T, Navarro A.

Mol Biol Evol. 2018 Aug 1;35(8):1990-2004. doi: 10.1093/molbev/msy105.

33.

Innovation at the Intersection of Clinical Trials and Real-World Data Science to Advance Patient Care.

Swift B, Jain L, White C, Chandrasekaran V, Bhandari A, Hughes DA, Jadhav PR.

Clin Transl Sci. 2018 Sep;11(5):450-460. doi: 10.1111/cts.12559. Epub 2018 May 16. Review.

34.

Societal Preferences for Funding Orphan Drugs in the United Kingdom: An Application of Person Trade-Off and Discrete Choice Experiment Methods.

Bourke SM, Plumpton CO, Hughes DA.

Value Health. 2018 May;21(5):538-546. doi: 10.1016/j.jval.2017.12.026.

35.

Abundant pseudo-Gaucher cells result in delay in diagnosis of plasma cell myeloma.

Beaton B, Ramaswami U, Hughes DA, Proctor I, Mehta A.

Br J Haematol. 2018 Aug;182(4):465. doi: 10.1111/bjh.15257. Epub 2018 May 9. No abstract available.

PMID:
29741764
36.

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, Nicholls K.

Orphanet J Rare Dis. 2018 Apr 27;13(1):68. doi: 10.1186/s13023-018-0813-7.

37.

Community views on factors affecting medicines resource allocation: cross-sectional survey of 3080 adults in Australia.

Chim L, Salkeld G, Kelly PJ, Lipworth W, Hughes DA, Stockler MR.

Aust Health Rev. 2018 Apr 19. doi: 10.1071/AH16209. [Epub ahead of print]

PMID:
29669674
38.

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Lavalle L, Thomas AS, Beaton B, Ebrahim H, Reed M, Ramaswami U, Elliott P, Mehta AB, Hughes DA.

PLoS One. 2018 Apr 5;13(4):e0193550. doi: 10.1371/journal.pone.0193550. eCollection 2018.

39.

New Medicines in Wales: The All Wales Medicines Strategy Group (AWMSG) Appraisal Process and Outcomes.

Varnava A, Bracchi R, Samuels K, Hughes DA, Routledge PA.

Pharmacoeconomics. 2018 May;36(5):613-624. doi: 10.1007/s40273-018-0632-7.

40.

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS, Tansey KE, Butcher F, Dudbridge F, Howson JM, Jallow MW, John C, Kingston N, Lindgren CM, O'Donavan M, O'Rahilly S, Owen MJ, Palmer CNA, Pearson ER, Scott RA, van Heel DA, Whittaker J, Frayling T, Tobin MD, Wain LV, Smith GD, Evans DM, Karpe F, McCarthy MI, Danesh J, Franks PW, Timpson NJ.

Nat Commun. 2018 Feb 19;9(1):711. doi: 10.1038/s41467-018-03109-y. Review.

41.

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM.

J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7.

42.

Economics of Pharmacogenetic-Guided Treatments: Underwhelming or Overstated?

Hughes DA.

Clin Pharmacol Ther. 2018 May;103(5):749-751. doi: 10.1002/cpt.1030. Epub 2018 Feb 13.

PMID:
29435984
43.

The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.

Ivleva A, Weith E, Mehta A, Hughes DA.

JIMD Rep. 2018;41:37-45. doi: 10.1007/8904_2017_84. Epub 2018 Jan 30.

44.

Fludrocortisone-a treatment for tubulopathy post-paediatric renal transplantation: A national paediatric nephrology unit experience.

Ali SR, Shaheen I, Young D, Ramage I, Maxwell H, Hughes DA, Athavale D, Shaikh MG.

Pediatr Transplant. 2018 Mar;22(2). doi: 10.1111/petr.13134. Epub 2018 Jan 18.

45.

Rare disease prevention and treatment: the need for a level playing field.

Hughes DA, Plumpton CO.

Pharmacogenomics. 2018 Feb;19(3):243-247. doi: 10.2217/pgs-2017-0300. Epub 2018 Jan 12.

PMID:
29327657
46.

Economic Impact of Emergency Visits due to Drug-Related Morbidity on a Brazilian Hospital.

Freitas GRM, Tramontina MY, Balbinotto G, Hughes DA, Heineck I.

Value Health Reg Issues. 2017 Dec;14:1-8. doi: 10.1016/j.vhri.2017.03.003. Epub 2017 Apr 25.

PMID:
29254532
47.

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR.

Mol Genet Metab. 2018 Feb;123(2):127-134. doi: 10.1016/j.ymgme.2017.11.015. Epub 2017 Dec 5.

48.

Subcutaneous Injection of Adalimumab Trial compared with Control (SCIATiC): a randomised controlled trial of adalimumab injection compared with placebo for patients receiving physiotherapy treatment for sciatica.

Williams NH, Jenkins A, Goulden N, Hoare Z, Hughes DA, Wood E, Foster NE, Walsh DA, Carnes D, Sparkes V, Hay EM, Isaacs J, Konstantinou K, Morrissey D, Karppinen J, Genevay S, Wilkinson C.

Health Technol Assess. 2017 Oct;21(60):1-180. doi: 10.3310/hta21600.

49.

The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.

Mac Lochlainn DJ, McKechnie DGJ, Mehta AB, Hughes DA.

Mol Genet Metab. 2018 Feb;123(2):154-158. doi: 10.1016/j.ymgme.2017.10.001. Epub 2017 Oct 5.

PMID:
29055531
50.

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.

Arends M, Körver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M.

J Inherit Metab Dis. 2018 Jan;41(1):141-149. doi: 10.1007/s10545-017-0095-6. Epub 2017 Oct 16.

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