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Items: 1 to 50 of 86

1.

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A.

Mol Genet Genomic Med. 2018 Apr 12. doi: 10.1002/mgg3.389. [Epub ahead of print]

2.

Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR.

Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review.

3.

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.

Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR.

Mol Genet Metab. 2016 Sep;119(1-2):151-9. doi: 10.1016/j.ymgme.2016.06.007. Epub 2016 Jun 13.

4.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.

5.

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.

Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG.

J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18.

6.

It is time to review how unlicensed medicines are used.

Sutherland A, Waldek S.

Eur J Clin Pharmacol. 2015 Sep;71(9):1029-35. doi: 10.1007/s00228-015-1886-z. Epub 2015 Jul 9. Review.

7.

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR.

J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.

8.

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.

van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE.

Mol Genet Metab. 2015 Feb;114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. Epub 2014 Aug 20.

PMID:
25187469
9.

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.

Anderson LJ, Henley W, Wyatt KM, Nikolaou V, Waldek S, Hughes DA, Lachmann RH, Logan S.

J Inherit Metab Dis. 2014 Nov;37(6):945-52. doi: 10.1007/s10545-014-9728-1. Epub 2014 Jun 7.

PMID:
24906254
10.

Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?

Waldek S, Feriozzi S.

BMC Nephrol. 2014 May 6;15:72. doi: 10.1186/1471-2369-15-72. Review.

11.

Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study.

Anderson LJ, Wyatt KM, Henley W, Nikolaou V, Waldek S, Hughes DA, Pastores GM, Logan S.

J Inherit Metab Dis. 2014 Nov;37(6):969-78. doi: 10.1007/s10545-014-9717-4. Epub 2014 May 15.

PMID:
24831586
12.

Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study.

Anderson LJ, Henley W, Wyatt KM, Nikolaou V, Waldek S, Hughes DA, Pastores GM, Logan S.

J Inherit Metab Dis. 2014 Nov;37(6):961-8. doi: 10.1007/s10545-014-9693-8. Epub 2014 Mar 18.

PMID:
24638276
13.

Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study.

Anderson LJ, Henley W, Wyatt KM, Nikolaou V, Hughes DA, Waldek S, Logan S.

J Inherit Metab Dis. 2014 Nov;37(6):953-60. doi: 10.1007/s10545-014-9680-0. Epub 2014 Feb 11.

PMID:
24515873
14.

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry.

Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, Beitner-Johnson D, Benistan K, Cabrera G, Charrow J, Kantola I, Linhart A, Nicholls K, Niemann M, Scott CR, Sims K, Waldek S, Warnock DG, Strotmann J; Fabry Registry.

Genet Med. 2013 Dec;15(12):958-65. doi: 10.1038/gim.2013.53. Epub 2013 May 23.

PMID:
23703683
15.

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

Giugliani R, Waldek S, Germain DP, Nicholls K, Bichet DG, Simosky JK, Bragat AC, Castelli JP, Benjamin ER, Boudes PF.

Mol Genet Metab. 2013 May;109(1):86-92. doi: 10.1016/j.ymgme.2013.01.009. Epub 2013 Jan 26.

16.

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.

Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A.

JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14.

17.

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

Wyatt K, Henley W, Anderson L, Anderson R, Nikolaou V, Stein K, Klinger L, Hughes D, Waldek S, Lachmann R, Mehta A, Vellodi A, Logan S.

Health Technol Assess. 2012;16(39):1-543. doi: 10.3310/hta16390.

18.

Enzyme replacement therapy improves cardiac features and severity of Fabry disease.

Motwani M, Banypersad S, Woolfson P, Waldek S.

Mol Genet Metab. 2012 Sep;107(1-2):197-202. doi: 10.1016/j.ymgme.2012.05.011. Epub 2012 May 29.

PMID:
22704481
19.

Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.

Wilcox WR, Linthorst GE, Germain DP, Feldt-Rasmussen U, Waldek S, Richards SM, Beitner-Johnson D, Cizmarik M, Cole JA, Kingma W, Warnock DG.

Mol Genet Metab. 2012 Mar;105(3):443-9. doi: 10.1016/j.ymgme.2011.12.006. Epub 2011 Dec 14.

PMID:
22227322
20.

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.

Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, Maródi L, Mignani R, Vujkovac B, Beitner-Johnson D, Lemay R, Cole JA, Svarstad E, Waldek S, Germain DP, Wanner C; Fabry Registry.

Nephrol Dial Transplant. 2012 Mar;27(3):1042-9. doi: 10.1093/ndt/gfr420. Epub 2011 Jul 29.

21.

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry.

Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, Serra AL, Maródi L, Mignani R, Cianciaruso B, Vujkovac B, Lemay R, Beitner-Johnson D, Waldek S, Warnock DG.

Clin J Am Soc Nephrol. 2010 Dec;5(12):2220-8. doi: 10.2215/CJN.04340510. Epub 2010 Sep 2.

22.

Fabry disease: a review of current management strategies.

Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, Rolfs A, Rivera A, Waldek S, Germain DP.

QJM. 2010 Sep;103(9):641-59. doi: 10.1093/qjmed/hcq117. Epub 2010 Jul 21. Review.

PMID:
20660166
23.

Enzyme replacement therapy for Fabry's disease.

Waldek S, Germain DP, Wanner C, Warnock DG.

Lancet. 2010 May 1;375(9725):1523; author reply 1523-4. doi: 10.1016/S0140-6736(10)60653-8. No abstract available.

PMID:
20435225
24.

Biomarkers of Fabry disease nephropathy.

Schiffmann R, Waldek S, Benigni A, Auray-Blais C.

Clin J Am Soc Nephrol. 2010 Feb;5(2):360-4. doi: 10.2215/CJN.06090809. Epub 2009 Nov 5.

25.

A validated disease severity scoring system for Fabry disease.

Giannini EH, Mehta AB, Hilz MJ, Beck M, Bichet DG, Brady RO, West M, Germain DP, Wanner C, Waldek S, Clarke JT, Mengel E, Strotmann JM, Warnock DG, Linhart A.

Mol Genet Metab. 2010 Mar;99(3):283-90. doi: 10.1016/j.ymgme.2009.10.178. Epub 2009 Oct 30.

PMID:
19951842
26.

Corneal confocal microscopy: a novel noninvasive means to diagnose neuropathy in patients with Fabry disease.

Tavakoli M, Marshall A, Thompson L, Kenny M, Waldek S, Efron N, Malik RA.

Muscle Nerve. 2009 Dec;40(6):976-84. doi: 10.1002/mus.21383.

PMID:
19902546
27.

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.

Ortiz A, Cianciaruso B, Cizmarik M, Germain DP, Mignani R, Oliveira JP, Villalobos J, Vujkovac B, Waldek S, Wanner C, Warnock DG.

Nephrol Dial Transplant. 2010 Mar;25(3):769-75. doi: 10.1093/ndt/gfp554. Epub 2009 Oct 21.

PMID:
19846394
28.

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).

Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F, Geldenhuys L, West M, Ferluga D, Vujkovac B, Howie AJ, Burns A, Reeve R, Waldek S, Noël LH, Grünfeld JP, Valbuena C, Oliveira JP, Müller J, Breunig F, Zhang X, Warnock DG; all members of the International Study Group of Fabry Nephropathy (ISGFN).

Nephrol Dial Transplant. 2010 Jul;25(7):2168-77. doi: 10.1093/ndt/gfp528. Epub 2009 Oct 15.

29.

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry.

Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P.

Genet Med. 2009 Nov;11(11):790-6. doi: 10.1097/GIM.0b013e3181bb05bb.

PMID:
19745746
30.

Predictive value of myocardial and coronary imaging in the long-term outcome of potential renal transplant recipients.

Atkinson P, Chiu DY, Sharma R, Kalra PR, Ward C, Foley RN, Venning MC, Waldek S, O'Donoghue DJ, Kalra PA.

Int J Cardiol. 2011 Jan 21;146(2):191-6. doi: 10.1016/j.ijcard.2009.06.050. Epub 2009 Jul 24.

PMID:
19631398
31.

Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease.

Oliveira JP, Valbuena C, Baldaia Moreira A, Fonseca E, Soares C, Leão Teles E, Waldek S.

Virchows Arch. 2008 Sep;453(3):291-300. doi: 10.1007/s00428-008-0651-4. Epub 2008 Sep 2. Erratum in: Virchows Arch. 2011 Nov;459(5):555-6.

PMID:
18762974
32.

Home-based infusion therapy for patients with Fabry disease.

Cousins A, Lee P, Rorman D, Raas-Rothschild A, Banikazemi M, Waldek S, Thompson L.

Br J Nurs. 2008 May 22-Jun 11;17(10):653-7. Review.

PMID:
18563007
33.

Milk alkali syndrome associated with excessive ingestion of Rennie: case reports.

Irtiza-Ali A, Waldek S, Lamerton E, Pennell A, Kalra PA.

J Ren Care. 2008 Jun;34(2):64-7. doi: 10.1111/j.1755-6686.2008.00018.x. Review.

PMID:
18498570
34.

Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults.

Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG.

Nat Clin Pract Nephrol. 2008 Jun;4(6):327-36. doi: 10.1038/ncpneph0806. Epub 2008 Apr 22.

PMID:
18431378
35.

Determinants of renal functional outcome in lupus nephritis: a single centre retrospective study.

Chrysochou C, Randhawa H, Reeve R, Waldek S, Wood GN, O'Donoghue DJ, Kalra PA.

QJM. 2008 Apr;101(4):313-6. doi: 10.1093/qjmed/hcn008. Epub 2008 Feb 12.

PMID:
18270227
36.

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.

Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C; Fabry Registry.

Nephrol Dial Transplant. 2008 May;23(5):1600-7. doi: 10.1093/ndt/gfm848. Epub 2008 Jan 5.

PMID:
18175781
37.

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry.

Mol Genet Metab. 2008 Feb;93(2):112-28. Epub 2007 Nov 26.

PMID:
18037317
38.

Depression in adults with Fabry disease: a common and under-diagnosed problem.

Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH.

J Inherit Metab Dis. 2007 Nov;30(6):943-51. Epub 2007 Nov 12.

PMID:
17994284
39.

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.

Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N.

J Am Soc Nephrol. 2007 May;18(5):1547-57. Epub 2007 Apr 4.

40.

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig F, Charrow J, Germain DP, Nicholls K, Banikazemi M.

J Inherit Metab Dis. 2007 Apr;30(2):184-92. Epub 2007 Mar 8.

PMID:
17347915
41.

Epidemiology and investigation of acute abdominal presentations in autosomal dominant polycystic kidney disease.

Chiu DY, Whiteside AM, Hegarty J, Wood G, O'Donoghue DJ, Waldek S, Mamtora H, Kalra PA.

Nephrol Dial Transplant. 2007 May;22(5):1483-4. Epub 2007 Jan 27. No abstract available.

PMID:
17259650
42.

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.

Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ; Fabry Disease Clinical Trial Study Group.

Ann Intern Med. 2007 Jan 16;146(2):77-86. Epub 2006 Dec 18.

PMID:
17179052
43.

Prevalence of hypogonadism in male patients with renal failure.

Albaaj F, Sivalingham M, Haynes P, McKinnon G, Foley RN, Waldek S, O'Donoghue DJ, Kalra PA.

Postgrad Med J. 2006 Oct;82(972):693-6.

44.

Is globotriaosylceramide a useful biomarker in Fabry disease?

Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S, Winchester B.

Acta Paediatr Suppl. 2005 Mar;94(447):51-4; discussion 37-8.

PMID:
15895713
45.

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

Mills K, Morris P, Lee P, Vellodi A, Waldek S, Young E, Winchester B.

J Inherit Metab Dis. 2005;28(1):35-48.

PMID:
15702404
46.

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP; International Fabry Disease Study Group.

Am J Hum Genet. 2004 Jul;75(1):65-74. Epub 2004 May 20.

47.

Serious adverse incidents with the usage of low molecular weight heparins in patients with chronic kidney disease.

Farooq V, Hegarty J, Chandrasekar T, Lamerton EH, Mitra S, Houghton JB, Kalra PA, Waldek S, O'Donoghue DJ, Wood GN.

Am J Kidney Dis. 2004 Mar;43(3):531-7.

PMID:
14981611
48.

PR interval and the response to enzyme-replacement therapy for Fabry's disease.

Waldek S.

N Engl J Med. 2003 Mar 20;348(12):1186-7. No abstract available.

PMID:
12646684
49.

A prospective study of the determinants of renal functional outcome and mortality in atherosclerotic renovascular disease.

Wright JR, Shurrab AE, Cheung C, Waldek S, O'Donoghue DJ, Foley RN, Mamtora H, Kalra PA.

Am J Kidney Dis. 2002 Jun;39(6):1153-61.

PMID:
12046025
50.

Impact of a high-dependency care area on the nutritional management of patients with acute uremia.

Maredia N, Green D, Jayasekera H, Robinson H, Jones A, Wright J, O'Donoghue DJ, Waldek S, Kalra PA.

J Ren Nutr. 2002 Apr;12(2):126-33.

PMID:
11953927

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