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Items: 1 to 20 of 207

1.

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.

Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A.

Heart. 2014 Nov;100(22):1793-8. doi: 10.1136/heartjnl-2014-305616. Epub 2014 Jul 16.

PMID:
25031264
2.

Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections.

Valbuena C, Leitão D, Carneiro F, Oliveira JP.

Virchows Arch. 2012 Feb;460(2):211-21. doi: 10.1007/s00428-011-1182-y. Epub 2011 Dec 29. Erratum in: Virchows Arch. 2012 Feb;460(2):223-4.

PMID:
22205110
3.

[Cardiological follow-up in patients with Fabry disease].

Pieruzzi F, Pieroni M, Chimenti C, Frustaci A, Sarais C, Cecchi F; Area Cardiologica-Advisory Board Plan Multidisciplinare "Diagnosi e Follow-up Malattia di Fabry".

G Ital Cardiol (Rome). 2010 Jul-Aug;11(7-8):566-72. Review. Italian.

PMID:
21033333
4.

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.

Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L.

J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394.

5.

Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.

Niemann M, Rolfs A, Störk S, Bijnens B, Breunig F, Beer M, Ertl G, Wanner C, Weidemann F.

Circ Cardiovasc Genet. 2014 Feb;7(1):8-16. doi: 10.1161/CIRCGENETICS.113.000249. Epub 2014 Jan 6.

PMID:
24395922
6.

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG.

N Engl J Med. 2005 Jan 27;352(4):362-72.

7.

Cardiac manifestations of Fabry's disease: a story of mother and son.

Moses H, Yarnoz MJ, Guglin M.

Congest Heart Fail. 2009 Mar-Apr;15(2):93-5. doi: 10.1111/j.1751-7133.2009.00050.x. No abstract available.

8.

An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring.

Rozenfeld PA, De Francesco NP, Borrajo GJ, Ceci R, Fossati CA.

Clin Chim Acta. 2009 May;403(1-2):194-7. doi: 10.1016/j.cca.2009.02.016. Epub 2009 Mar 4.

PMID:
19268437
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.

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
11.

Early therapeutic intervention in females with Fabry disease?

Hughes DA.

Acta Paediatr. 2008 Apr;97(457):41-7. doi: 10.1111/j.1651-2227.2008.00649.x. Review.

PMID:
18339187
12.

Fabry disease in patients with hypertrophic cardiomyopathy (HCM).

Beer G, Reinecke P, Gabbert HE, Hort W, Kuhn H.

Z Kardiol. 2002 Dec;91(12):992-1002. Review.

PMID:
12490989
13.

A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients.

Manwaring V, Boutin M, Auray-Blais C.

Anal Chem. 2013 Oct 1;85(19):9039-48. doi: 10.1021/ac401542k. Epub 2013 Sep 11.

PMID:
23968398
14.

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.

15.

Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy.

Gaggl M, Lajic N, Heinze G, Voigtländer T, Sunder-Plassmann R, Paschke E, Fauler G, Sunder-Plassmann G, Mundigler G.

Int J Med Sci. 2016 Apr 26;13(5):340-6. doi: 10.7150/ijms.14997. eCollection 2016.

16.

The Fabry cardiomyopathy: models for the cardiologist.

Weidemann F, Niemann M, Warnock DG, Ertl G, Wanner C.

Annu Rev Med. 2011;62:59-67. doi: 10.1146/annurev-med-090910-085119. Review.

PMID:
21090963
17.

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.

Oikawa M, Sakamoto N, Kobayashi A, Suzuki S, Yoshihisa A, Yamaki T, Nakazato K, Suzuki H, Saitoh S, Kiko Y, Nakano H, Hayashi T, Kimura A, Takeishi Y.

BMC Cardiovasc Disord. 2016 May 10;16:83. doi: 10.1186/s12872-016-0262-y.

18.

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.

19.

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

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