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Items: 1 to 20 of 116

1.

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Pan X, Ouyang Y, Wang Z, Ren H, Shen P, Wang W, Xu Y, Ni L, Yu X, Chen X, Zhang W, Yang L, Li X, Xu J, Chen N.

PLoS One. 2016 Aug 25;11(8):e0161330. doi: 10.1371/journal.pone.0161330. eCollection 2016.

2.

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.

3.

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.

Beck M, Hughes D, Kampmann C, Larroque S, Mehta A, Pintos-Morell G, Ramaswami U, West M, Wijatyk A, Giugliani R; Fabry Outcome Survey Study Group.

Mol Genet Metab Rep. 2015 Mar 5;3:21-7. doi: 10.1016/j.ymgmr.2015.02.002. eCollection 2015 Jun.

4.

Long time enzyme replacement therapy stabilizes obstructive lung disease and alters peripheral immune cell subsets in Fabry patients.

Odler B, Cseh Á, Constantin T, Fekete G, Losonczy G, Tamási L, Benke K, Szilveszter B, Müller V.

Clin Respir J. 2017 Nov;11(6):942-950. doi: 10.1111/crj.12446. Epub 2016 Feb 18.

PMID:
26763180
5.

Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.

Warnock DG, Thomas CP, Vujkovac B, Campbell RC, Charrow J, Laney DA, Jackson LL, Wilcox WR, Wanner C.

J Med Genet. 2015 Dec;52(12):860-6. doi: 10.1136/jmedgenet-2015-103471. Epub 2015 Oct 21.

6.

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.

Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27.

PMID:
26415523
7.

Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.

Goker-Alpan O, Gambello MJ, Maegawa GH, Nedd KJ, Gruskin DJ, Blankstein L, Weinreb NJ.

JIMD Rep. 2016;25:95-106. Epub 2015 Aug 25.

8.

X-chromosome inactivation in female patients with Fabry disease.

Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP.

Clin Genet. 2016 Jan;89(1):44-54. doi: 10.1111/cge.12613. Epub 2015 Jun 22.

PMID:
25974833
9.

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U.

PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015.

10.

A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease.

Schiffmann R, Swift C, Wang X, Blankenship D, Ries M.

J Inherit Metab Dis. 2015 Nov;38(6):1129-36. doi: 10.1007/s10545-015-9845-5. Epub 2015 Apr 22.

PMID:
25900714
11.

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE.

Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6.

12.

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.

13.

Ocular signs correlate well with disease severity and genotype in Fabry disease.

Pitz S, Kalkum G, Arash L, Karabul N, Sodi A, Larroque S, Beck M, Gal A.

PLoS One. 2015 Mar 17;10(3):e0120814. doi: 10.1371/journal.pone.0120814. eCollection 2015.

14.

Clinical prodromes of neurodegeneration in Anderson-Fabry disease.

Löhle M, Hughes D, Milligan A, Richfield L, Reichmann H, Mehta A, Schapira AH.

Neurology. 2015 Apr 7;84(14):1454-64. doi: 10.1212/WNL.0000000000001450. Epub 2015 Mar 11.

15.
16.

Thromboembolic events in Fabry disease and the impact of factor V Leiden.

Lenders M, Karabul N, Duning T, Schmitz B, Schelleckes M, Mesters R, Hense HW, Beck M, Brand SM, Brand E.

Neurology. 2015 Mar 10;84(10):1009-16. doi: 10.1212/WNL.0000000000001333. Epub 2015 Feb 6.

PMID:
25663229
17.

Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.

Patel V, O'Mahony C, Hughes D, Rahman MS, Coats C, Murphy E, Lachmann R, Mehta A, Elliott PM.

Heart. 2015 Jun;101(12):961-6. doi: 10.1136/heartjnl-2014-306782. Epub 2015 Feb 5.

PMID:
25655062
18.

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

Ferreira S, Ortiz A, Germain DP, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, Fenollar-Cortés M, Gallegos-Villalobos Á, Garcia D, García-Robles JA, Egido J, Gutiérrez-Rivas E, Herrero JA, Mas S, Oancea R, Péres P, Salazar-Martín LM, Solera-Garcia J, Alves H, Garman SC, Oliveira JP.

Mol Genet Metab. 2015 Feb;114(2):248-58. doi: 10.1016/j.ymgme.2014.11.004. Epub 2014 Nov 9.

19.

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE.

Int J Cardiol. 2014 Dec 15;177(2):400-8. doi: 10.1016/j.ijcard.2014.09.001. Epub 2014 Sep 20. Review.

PMID:
25442977
20.

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Auray-Blais C, Blais CM, Ramaswami U, Boutin M, Germain DP, Dyack S, Bodamer O, Pintos-Morell G, Clarke JT, Bichet DG, Warnock DG, Echevarria L, West ML, Lavoie P.

Clin Chim Acta. 2015 Jan 1;438:195-204. doi: 10.1016/j.cca.2014.08.002. Epub 2014 Aug 19.

PMID:
25149322

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