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Results: 1 to 20 of 416

1.

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
[PubMed - indexed for MEDLINE]
2.

Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry.

Sims K, Politei J, Banikazemi M, Lee P.

Stroke. 2009 Mar;40(3):788-94. doi: 10.1161/STROKEAHA.108.526293. Epub 2009 Jan 15.

PMID:
19150871
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
Free Article
5.

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, Mannens MM, Aerts JM, Hollak CE.

J Inherit Metab Dis. 2007 Feb;30(1):68-78. Epub 2007 Jan 5.

PMID:
17206462
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement.

Pisani A, Spinelli L, Sabbatini M, Andreucci MV, Procaccini D, Abbaterusso C, Pasquali S, Savoldi S, Comotti C, Cianciaruso B.

Am J Kidney Dis. 2005 Jul;46(1):120-7.

PMID:
15983965
[PubMed - indexed for MEDLINE]
9.

Anderson-Fabry disease: a multiorgan disease.

Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Pinto A, Licata G.

Curr Pharm Des. 2013;19(33):5974-96. Review.

PMID:
23448451
[PubMed - indexed for MEDLINE]
10.

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ.

J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68.

PMID:
15091117
[PubMed - indexed for MEDLINE]
11.

Fabry disease.

Germain DP.

Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. Review.

PMID:
21092187
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Frequency of Fabry disease in male and female haemodialysis patients in Spain.

Gaspar P, Herrera J, Rodrigues D, Cerezo S, Delgado R, Andrade CF, Forascepi R, Macias J, del Pino MD, Prados MD, de Alegria PR, Torres G, Vidau P, Sá-Miranda MC.

BMC Med Genet. 2010 Feb 1;11:19. doi: 10.1186/1471-2350-11-19.

PMID:
20122163
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.

Gupta S, Ries M, Kotsopoulos S, Schiffmann R.

Medicine (Baltimore). 2005 Sep;84(5):261-8.

PMID:
16148726
[PubMed - indexed for MEDLINE]
14.

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR.

Pediatr Res. 2008 Nov;64(5):550-5. doi: 10.1203/PDR.0b013e318183f132.

PMID:
18596579
[PubMed - indexed for MEDLINE]
15.

The heart in Fabry's disease.

Sheppard MN.

Cardiovasc Pathol. 2011 Jan-Feb;20(1):8-14. doi: 10.1016/j.carpath.2009.10.003. Epub 2009 Nov 17. Review.

PMID:
19919901
[PubMed - indexed for MEDLINE]
16.

[Evaluation of patients with Fabry disease in Argentina].

AADELFA (Asociación Argentina de estudio de enfermedad de Fabry y otras enfermedades lisosomales).

Medicina (B Aires). 2010;70(1):37-43. Spanish.

PMID:
20228022
[PubMed - indexed for MEDLINE]
17.

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M; FOS European Investigators.

Acta Paediatr. 2006 Jan;95(1):86-92.

PMID:
16498740
[PubMed - indexed for MEDLINE]
18.

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR.

Ann Intern Med. 2003 Feb 18;138(4):338-46. Review.

PMID:
12585833
[PubMed - indexed for MEDLINE]
19.

Demographic characterization of Brazilian patients enrolled in the Fabry Registry.

Martins AM, Kyosen SO, Garrote J, Marques FM, Guilhem JG, Macedo E, Sobral Neto J, Ura S.

Genet Mol Res. 2013 Jan 24;12(1):136-42. doi: 10.4238/2013.January.24.5.

PMID:
23408399
[PubMed - indexed for MEDLINE]
Free Article
20.

Natural history of Fabry disease in females in the Fabry Outcome Survey.

Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators.

J Med Genet. 2006 Apr;43(4):347-52. Epub 2005 Oct 14.

PMID:
16227523
[PubMed - indexed for MEDLINE]
Free PMC Article
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