Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 73

1.

Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy.

Nordin S, Kozor R, Vijapurapu R, Augusto JB, Knott KD, Captur G, Treibel TA, Ramaswami U, Tchan M, Geberhiwot T, Steeds RP, Hughes DA, Moon JC.

Circ Cardiovasc Imaging. 2019 Dec;12(12):e009430. doi: 10.1161/CIRCIMAGING.119.009430. Epub 2019 Dec 12.

2.

Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease.

Donald A, Cizer H, Finnegan N, Collin-Histed T, Hughes DA, Davies EH.

Orphanet J Rare Dis. 2019 Sep 5;14(1):212. doi: 10.1186/s13023-019-1182-6.

3.

Study of indications for cardiac device implantation and utilisation in Fabry cardiomyopathy.

Vijapurapu R, Geberhiwot T, Jovanovic A, Baig S, Nordin S, Kozor R, Leyva F, Kotecha D, Wheeldon N, Deegan P, Rusk RA, Moon JC, Hughes DA, Woolfson P, Steeds RP.

Heart. 2019 Dec;105(23):1825-1831. doi: 10.1136/heartjnl-2019-315229. Epub 2019 Aug 24.

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 Oct;90(10):1091-1097. doi: 10.1136/jnnp-2019-320394. Epub 2019 Jun 20.

PMID:
31221723
5.

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.

6.

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.

7.

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 Sep;21(9):1987-1997. doi: 10.1038/s41436-019-0451-z. Epub 2019 Feb 6.

8.

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. Review. Erratum in: Intern Med J. 2019 Aug;49(8):1059.

9.

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.

10.

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
11.

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
12.

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
13.

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
14.

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; 1993-2020.
2000 Jul 27 [updated 2018 Jun 21].

15.

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
16.

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.

17.

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.

18.

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.

19.

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.

20.

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

Supplemental Content

Loading ...
Support Center