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Items: 1 to 20 of 263

1.

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.

Okur I, Ezgu F, Biberoglu G, Tumer L, Erten Y, Isitman M, Eminoglu FT, Hasanoglu A.

Gene. 2013 Sep 15;527(1):42-7. doi: 10.1016/j.gene.2013.05.050. Epub 2013 Jun 10.

PMID:
23756194
2.

Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.

Nishino T, Obata Y, Furusu A, Hirose M, Shinzato K, Hattori K, Nakamura K, Matsumoto T, Endo F, Kohno S.

Ren Fail. 2012;34(5):566-70. doi: 10.3109/0886022X.2012.669300.

PMID:
22563919
3.

Prevalence of Fabry disease among Turkish dialysis patients: Data from hemodialysis centers in Bursa province.

Sayilar EI, Ayar Y, Yavuz M.

Clin Nephrol. 2016 Mar;85(3):165-72. doi: 10.5414/CN108672.

PMID:
26833297
4.

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
5.

Alpha-galactosidase A activity levels in Turkish male hemodialysis patients.

Kalkan Uçar S, Sozmen E, Duman S, Başçi A, Çoker M.

Ther Apher Dial. 2012 Dec;16(6):560-5. doi: 10.1111/j.1744-9987.2012.01092.x. Epub 2012 Aug 13.

PMID:
23190516
6.

Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.

Duro G, Musumeci MB, Colomba P, Zizzo C, Albeggiani G, Mastromarino V, Volpe M, Autore C.

Gene. 2014 Feb 10;535(2):365-9. doi: 10.1016/j.gene.2013.09.058. Epub 2013 Oct 17.

PMID:
24140492
7.

Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.

Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, Araki E, Itoh K, Matsushita K, Hara M, Kuwahara K, Nakano T, Yasumoto N, Nonoguchi H, Tomita K.

Clin Nephrol. 2005 Oct;64(4):281-7.

PMID:
16240899
8.

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
9.

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.

Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ.

Kidney Int. 2003 Sep;64(3):801-7.

10.

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report.

Porsch DB, Nunes AC, Milani V, Rossato LB, Mattos CB, Tsao M, Netto C, Burin M, Pereira F, Matte U, Giugliani R, Barros EJ.

Ren Fail. 2008;30(9):825-30. doi: 10.1080/08860220802353777.

PMID:
18925518
11.

A missense mutation of the α-galactosidase A gene in a Chinese family of Fabry disease with renal failure.

Wang C, Wang Y, Zhu F, Xiong J.

Kidney Blood Press Res. 2013;37(4-5):221-8. doi: 10.1159/000350147. Epub 2013 Jun 8.

12.

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
13.

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.

15.

Prevalence of Fabry's disease within hemodialysis patients in Spain.

Herrera J, Miranda CS.

Clin Nephrol. 2014 Feb;81(2):112-20. doi: 10.5414/CN108053.

PMID:
24365053
16.

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
17.

De novo mutation in a male patient with Fabry disease: a case report.

Iemolo F, Pizzo F, Albeggiani G, Zizzo C, Colomba P, Scalia S, Bartolotta C, Duro G.

BMC Res Notes. 2014 Jan 7;7:11. doi: 10.1186/1756-0500-7-11.

18.

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.

19.

Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease.

Fujii H, Kono K, Goto S, Onishi T, Kawai H, Hirata K, Hattori K, Nakamura K, Endo F, Fukagawa M.

Am J Nephrol. 2009;30(6):527-35. doi: 10.1159/000250968. Epub 2009 Oct 16.

PMID:
19844084
20.

Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P.

Fukutomi M, Tanaka N, Uchinoumi H, Kanemoto M, Nakao F, Yamada J, Kamei T, Takenaka T, Fujii T.

J Cardiol. 2013 Jul;62(1):63-9. doi: 10.1016/j.jjcc.2013.02.012. Epub 2013 Apr 19.

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