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Results: 1 to 20 of 128

Related Citations for PubMed (Select 23210910)

1.

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

Zampetti A, Fania L, Antuzzi D, Giurdanella F, Gnarra M, Bertola F, Lualdi S, Filocamo M, Morrone A, Feliciani C.

Clin Genet. 2013 Sep;84(3):281-5. doi: 10.1111/cge.12071. Epub 2012 Dec 28.

PMID:
23210910
2.

[Fabry disease: data from four families].

Slee PH, van Boven LJ, Slee DS.

Ned Tijdschr Geneeskd. 2000 Dec 9;144(50):2412-5. Dutch.

PMID:
11145098
3.

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
4.

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A.

Clin Genet. 2012 Mar;81(3):224-33. doi: 10.1111/j.1399-0004.2011.01689.x. Epub 2011 May 25.

PMID:
21517827
5.

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.

6.

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, Beck M, Roscher AA, Muntau AC.

Acta Paediatr Suppl. 2006 Apr;95(451):30-8.

PMID:
16720462
7.

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.

8.

[Genetics of Fabry disease: diagnostic and therapeutic implications].

Germain DP.

Presse Med. 2007 Mar;36 Spec No 1:1S14-9. Review. French.

PMID:
17546762
9.

Fabry disease.

Tarabuso AL.

Skinmed. 2011 May-Jun;9(3):173-7. Review.

PMID:
21675497
10.

Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.

Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T.

J Cardiol. 2011 May;57(3):345-53. doi: 10.1016/j.jjcc.2010.12.004. Epub 2011 Feb 17.

12.

[Priapism: a severe paediatric complication of Fabry disease].

Labarthe F, de Bodman C, Maruani A, Szwarc C, Froissart R, Lorette G, Lardy H.

Rev Med Interne. 2010 Dec;31 Suppl 2:S217-9. doi: 10.1016/S0248-8663(10)70015-1. French.

PMID:
21211667
13.

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).

Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM.

Am J Med Genet. 1999 Jun 11;84(5):420-4.

PMID:
10360396
14.

A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.

Choi JS, Kim CS, Park JW, Bae EH, Ma SK, Choi YD, Kim GH, Yoo HW, Kim SW.

Ren Fail. 2012;34(3):390-3. doi: 10.3109/0886022X.2011.647300. Epub 2012 Jan 20.

PMID:
22260214
15.

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.

16.

Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).

Nakagawa N, Maruyama H, Ishihara T, Seino U, Kawabe J, Takahashi F, Kobayashi M, Yamauchi A, Sasaki Y, Sakamoto N, Ota H, Tanabe Y, Takeuchi T, Takenaka T, Kikuchi K, Hasebe N.

Int Heart J. 2011;52(5):308-11.

17.

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
18.

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.

Zizzo C, Colomba P, Albeggiani G, Gallizzi R, Iemolo F, Nuzzo D, Vasto S, Caruso C, Duro G.

Clin Genet. 2013 Jun;83(6):576-81. doi: 10.1111/j.1399-0004.2012.01940.x. Epub 2012 Aug 20.

PMID:
22905681
19.

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
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