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Items: 1 to 20 of 98

1.

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.

Pisani A, Daniele A, Di Domenico C, Nigro E, Salvatore F, Riccio E.

BMC Res Notes. 2015 Nov 24;8:711. doi: 10.1186/s13104-015-1696-5.

2.

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.

3.

Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.

Chong Y, Kim M, Koh ES, Shin SJ, Kim HS, Chung S.

BMC Med Genet. 2016 Oct 24;17(1):76.

4.

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
5.

Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.

Caetano F, Botelho A, Mota P, Silva J, Leitão Marques A.

Rev Port Cardiol. 2014 Mar;33(3):183.e1-5. doi: 10.1016/j.repc.2013.11.005. Epub 2014 Mar 21.

6.

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
7.

Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.

Odani K, Okumi M, Honda K, Ishida H, Tanabe K.

Nephrology (Carlton). 2016 Jul;21 Suppl 1:57-9. doi: 10.1111/nep.12771.

PMID:
26971403
8.

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
9.

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
10.

Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin.

Pisani A, Riccio E, Cianciaruso B, Imbriaco M.

J Nephrol. 2011 Nov-Dec;24(6):806-8. doi: 10.5301/jn.5000031.

PMID:
22058028
11.

No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene.

Kobayashi M, Ohashi T, Fukuda T, Yanagisawa T, Inomata T, Nagaoka T, Kitagawa T, Eto Y, Ida H, Kusano E.

Mol Genet Metab. 2012 Dec;107(4):711-5. doi: 10.1016/j.ymgme.2012.10.018. Epub 2012 Oct 24.

PMID:
23146289
12.

Fabry disease. A case report.

Kotnik J, Kotnik F, Desnick RJ.

Acta Dermatovenerol Alp Pannonica Adriat. 2005 Mar;14(1):15-9.

13.

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.

14.

Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports.

Patil RB, Joglekar VK.

J Assoc Physicians India. 2014 Jan;62(1):69-71.

PMID:
25327101
15.

Multiple parapelvic cysts in Fabry disease.

Azancot MA, Vila J, Domínguez C, Serres X, Espinel E.

Nefrologia. 2016 May-Jun;36(3):310-2. doi: 10.1016/j.nefro.2015.12.003. Epub 2016 Apr 6. English, Spanish.

16.

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
17.

Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area.

Zizzo C, Testa A, Colomba P, Postorino M, Natale G, Pini A, Francofonte D, Cammarata G, Scalia S, Sciarrino S, Zoccali C, Duro G.

Kidney Blood Press Res. 2018;43(4):1344-1351. doi: 10.1159/000492593. Epub 2018 Aug 10.

18.

Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.

Maruyama H, Takata T, Tsubata Y, Tazawa R, Goto K, Tohyama J, Narita I, Yoshioka H, Ishii S.

Clin J Am Soc Nephrol. 2013 Apr;8(4):629-36. doi: 10.2215/CJN.08780812. Epub 2013 Jan 10.

19.

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.

20.

[A boy with Fabry disease with the onset at the age of four].

Liu YP, Huang Y, Wang Q, Wu TF, Ma YY, Li XY, Song JQ, Yang YL.

Beijing Da Xue Xue Bao Yi Xue Ban. 2013 Apr 18;45(2):307-11. Chinese.

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