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Results: 1 to 20 of 133

Similar articles for PubMed (Select 21211679)

1.

[Contribution of genotyping in Fabry's disease].

Froissart R, Piraud M, Maire I.

Rev Med Interne. 2010 Dec;31 Suppl 2:S275-8. doi: 10.1016/S0248-8663(10)70027-8. French.

PMID:
21211679
2.
3.

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
4.

Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.

Yoshitama T, Nakao S, Takenaka T, Teraguchi H, Sasaki T, Kodama C, Tanaka A, Kisanuki A, Tei C.

Am J Cardiol. 2001 Jan 1;87(1):71-5.

PMID:
11137837
5.
6.

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.

7.

Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.

Celtikci B, Topçu M, Ozkara HA.

Clin Biochem. 2011 Jul;44(10-11):809-12. doi: 10.1016/j.clinbiochem.2011.04.022. Epub 2011 May 4.

PMID:
21569769
8.

Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.

Tse KC, Chan KW, Tin VP, Yip PS, Tang S, Li FK, Ho YW, Lai KN, Chan TM.

Nephrol Dial Transplant. 2003 Jan;18(1):182-6.

9.

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

Topaloglu AK, Ashley GA, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ.

Mol Med. 1999 Dec;5(12):806-11.

10.
11.

[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
12.

[Gaucher's and Fabry's diseases: biochemical and genetic aspects].

Caillaud C, Poenaru L.

J Soc Biol. 2002;196(2):135-40. Review. French.

PMID:
12360742
13.

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

Germain DP.

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

PMID:
17546762
14.
15.

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM, Goldfarb LG, Park KY, Kaneski C, Jeffries N, Litvak S, Nagle JW, Schiffmann R.

Clin Genet. 2001 Jul;60(1):46-51.

PMID:
11531969
16.

A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.

Handa Y, Yotsumoto S, Isobe E, Sai Y, Yoshii N, Nakao S, Fujita N, Hamaguchi S, Kanzaki T.

Dermatology. 2000;200(3):262-5.

PMID:
10828639
17.

New insights in cardiac structural changes in patients with Fabry's disease.

Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudová J, Karetová D, Zeman J, Ledvinová J, Poupetová H, Elleder M, Aschermann M.

Am Heart J. 2000 Jun;139(6):1101-8.

PMID:
10827394
18.

An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, et al.

N Engl J Med. 1995 Aug 3;333(5):288-93.

19.

Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.

Garzuly F, Maródi L, Erdös M, Grubits J, Varga Z, Gelpi E, Rohonyi B, Mázló M, Molnár A, Budka H.

Brain. 2005 Sep;128(Pt 9):2078-83. Epub 2005 Jun 9.

20.

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
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