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Items: 1 to 20 of 82

1.

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT.

Terryn W, Vanholder R, Hemelsoet D, Leroy BP, Van Biesen W, De Schoenmakere G, Wuyts B, Claes K, De Backer J, De Paepe G, Fogo A, Praet M, Poppe B.

JIMD Rep. 2013;8:101-8. doi: 10.1007/8904_2012_167. Epub 2012 Jul 29.

2.

Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.

Terryn W, Deschoenmakere G, De Keyser J, Meersseman W, Van Biesen W, Wuyts B, Hemelsoet D, Pascale H, De Backer J, De Paepe A, Poppe B, Vanholder R.

Int J Cardiol. 2013 Sep 10;167(6):2555-60. doi: 10.1016/j.ijcard.2012.06.069. Epub 2012 Jul 16.

PMID:
22805550
3.
4.

Treatment of fabry disease: current and emerging strategies.

Rozenfeld P, Neumann PM.

Curr Pharm Biotechnol. 2011 Jun;12(6):916-22. doi: 1389-2010/11 $58.00+.00. Review.

PMID:
21235448
5.

Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.

Cybulla M, Schaefer E, Wendt S, Ling H, Kröber SM, Hövelborn U, Schandelmaier S, Rohrbach R, Neumann HP.

Am J Kidney Dis. 2005 May;45(5):e82-9.

PMID:
15861341
6.

Fabry disease in patients with end-stage renal failure: the potential benefits of screening.

Bekri S, Enica A, Ghafari T, Plaza G, Champenois I, Choukroun G, Unwin R, Jaeger P.

Nephron Clin Pract. 2005;101(1):c33-8. Epub 2005 May 9.

PMID:
15886492
7.

Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.

Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, Serra A, Van Biesen W, Vanholder R, Wanner C.

Nephrol Dial Transplant. 2013 Mar;28(3):505-17. doi: 10.1093/ndt/gfs526. Epub 2012 Dec 12.

PMID:
23234755
8.

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
9.

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.

Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, Mehta AB.

Heart. 2008 Feb;94(2):153-8. Epub 2007 May 4.

PMID:
17483124
10.

Pediatric Fabry disease.

Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R.

Pediatrics. 2005 Mar;115(3):e344-55. Epub 2005 Feb 15.

PMID:
15713906
11.

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.

Doi K, Noiri E, Ishizu T, Negishi K, Suzuki Y, Hamasaki Y, Honda K, Fujita T, Tsukimura T, Togawa T, Saito S, Sakuraba H.

J Hum Genet. 2012 Sep;57(9):575-9. doi: 10.1038/jhg.2012.68. Epub 2012 Jun 14.

PMID:
22695894
12.

Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.

Terryn W, Poppe B, Wuyts B, Claes K, Maes B, Verbeelen D, Vanholder R, De Boeck K, Lameire N, De Paepe A, De Schoenmakere G.

Nephrol Dial Transplant. 2008 Jan;23(1):294-300. Epub 2007 Sep 5.

PMID:
17804462
13.

[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
14.

[Description of a new mutation in a female patient with Fabry disease].

Correia E, Vidinha J, Rodrigues B, Santos L, Moreira D, Garrido J, Clara Sá Miranda M, Cabral C, Santos O.

Rev Port Cardiol. 2011 Oct;30(10):789-93. doi: 10.1016/S0870-2551(11)70027-0. Portuguese.

PMID:
22118130
15.

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.

Schaefer E, Mehta A, Gal A.

Acta Paediatr Suppl. 2005 Mar;94(447):87-92; discussion 79. Review.

PMID:
15895718
16.

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.

17.

Fabry disease: treatment and diagnosis.

Rozenfeld PA.

IUBMB Life. 2009 Nov;61(11):1043-50. doi: 10.1002/iub.257.

18.

Significance of screening for Fabry disease among male dialysis patients.

Ichinose M, Nakayama M, Ohashi T, Utsunomiya Y, Kobayashi M, Eto Y.

Clin Exp Nephrol. 2005 Sep;9(3):228-32.

PMID:
16189631
19.

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

Lin HY, Huang CH, Yu HC, Chong KW, Hsu JH, Lee PC, Cheng KH, Chiang CC, Ho HJ, Lin SP, Chen SJ, Lin PK, Niu DM.

J Inherit Metab Dis. 2010 Oct;33(5):619-24. doi: 10.1007/s10545-010-9166-7. Epub 2010 Sep 7.

PMID:
20821055
20.

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.

Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtländer T, Auinger M, Pagliardini S, Spada M, Demmelbauer K, Lorenz M, Hauser AC, Kofler HJ, Lhotta K, Neyer U, Pronai W, Wallner M, Wieser C, Wiesholzer M, Zodl H, Födinger M, Sunder-Plassmann G.

J Am Soc Nephrol. 2004 May;15(5):1323-9. Erratum in: J Am Soc Nephrol. 2004 Sep;15(9):A4. J Am Soc Nephrol. 2004 Aug;15(8):1a.

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