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Items: 1 to 20 of 165

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
2.

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
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

Fabry disease.

Germain DP.

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

9.

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.

10.

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.

11.

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
12.

[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
13.

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
14.

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.

15.

Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS).

Barba-Romero MÁ, Rivera-Gallego A, Pintos-Morell G; Spanish FOS-Study Group.

Int J Clin Pract. 2011 Aug;65(8):903-10. doi: 10.1111/j.1742-1241.2011.02695.x. Epub 2011 Jun 16.

PMID:
21679285
16.
17.

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
18.

Neurological complications of Anderson-Fabry disease.

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

Curr Pharm Des. 2013;19(33):6014-30. Review.

PMID:
23448452
19.

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
20.

Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.

Suntjens EB, Smid BE, Biegstraaten M, Dreschler WA, Hollak CE, Linthorst GE.

J Inherit Metab Dis. 2015 Mar;38(2):351-8. doi: 10.1007/s10545-014-9783-7. Epub 2014 Nov 14.

PMID:
25395255

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