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Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring.

Hoffmann B.

Orphanet J Rare Dis. 2009 Oct 11;4:21. Review.PMID: 19818152 [PubMed - indexed for MEDLINE]Related articlesFree article

Anderson-Fabry disease: developments in diagnosis and treatment.

Mehta AB.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S66-74. Review.PMID: 20040315 [PubMed - indexed for MEDLINE]Related articles

Fabry disease: treatment and diagnosis.

Rozenfeld PA.

IUBMB Life. 2009 Nov;61(11):1043-50.PMID: 19859978 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2009 Mar 4.PMID: 19268437 [PubMed - indexed for MEDLINE]Related articles

Clinical features of and recent advances in therapy for Fabry disease.

Brady RO, Schiffmann R.

JAMA. 2000 Dec 6;284(21):2771-5. Erratum in: JAMA 2001 Jan 10;285(2):169. PMID: 11105184 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Narrative review: Fabry disease.

Clarke JT.

Ann Intern Med. 2007 Mar 20;146(6):425-33. Review.PMID: 17371887 [PubMed - indexed for MEDLINE]Related articlesFree article

Early therapeutic intervention in females with Fabry disease?

Hughes DA.

Acta Paediatr Suppl. 2008 Apr;97(457):41-7. Review.PMID: 18339187 [PubMed - indexed for MEDLINE]Related articles

[Fabry disease. An interdisciplinary challenge]

Cybulla M, Neumann HP.

Dtsch Med Wochenschr. 2007 Oct;132(43):2271-7. Review. German. PMID: 17940933 [PubMed - indexed for MEDLINE]Related articles

Fabry disease in children and the effects of enzyme replacement treatment.

Pintos-Morell G, Beck M.

Eur J Pediatr. 2009 Nov;168(11):1355-63. Epub 2009 Feb 26.PMID: 19242721 [PubMed - indexed for MEDLINE]Related articlesFree article

The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature.

Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F.

Cardiovasc Hematol Agents Med Chem. 2006 Oct;4(4):289-97. Review.PMID: 17073606 [PubMed - indexed for MEDLINE]Related articles

Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy.

Thomaidis T, Relle M, Golbas M, Brochhausen C, Galle PR, Beck M, Schwarting A.

Kidney Int. 2009 Feb;75(4):399-407. Epub 2008 Nov 26.PMID: 19037253 [PubMed - indexed for MEDLINE]Related articles

[Fabry disease--a provocation for pediatrics]

Hoffmann B, Mayatepek E.

Klin Padiatr. 2006 Jan-Feb;218(1):38-40. German. PMID: 16432775 [PubMed - indexed for MEDLINE]Related articles

Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.

Moore DF, Ries M, Forget EL, Schiffmann R.

Pharmacoeconomics. 2007;25(3):201-8.PMID: 17335306 [PubMed - indexed for MEDLINE]Related articles

Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement.

Pisani A, Spinelli L, Sabbatini M, Andreucci MV, Procaccini D, Abbaterusso C, Pasquali S, Savoldi S, Comotti C, Cianciaruso B.

Am J Kidney Dis. 2005 Jul;46(1):120-7.PMID: 15983965 [PubMed - indexed for MEDLINE]Related articles

[Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects.]

Peces R, Olea T.

Nefrologia. 2002;22(6):540-6. Spanish. PMID: 12516287 [PubMed - indexed for MEDLINE]Related articles

Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients.

Rozenfeld PA, Croxatto O, Ebner R, Fossati CA.

Clin Experiment Ophthalmol. 2006 Sep-Oct;34(7):689-94.PMID: 16970764 [PubMed - indexed for MEDLINE]Related articles

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.

Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M.

Eur J Clin Invest. 2004 Mar;34(3):236-42.PMID: 15025684 [PubMed - indexed for MEDLINE]Related articles

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 Aug;15(8):1a. J Am Soc Nephrol. 2004 Sep;15(9):A4. PMID: 15100373 [PubMed - indexed for MEDLINE]Related articlesFree article

Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.

Whitfield PD, Calvin J, Hogg S, O'Driscoll E, Halsall D, Burling K, Maguire G, Wright N, Cox TM, Meikle PJ, Deegan PB.

J Inherit Metab Dis. 2005;28(1):21-33.PMID: 15702403 [PubMed - indexed for MEDLINE]Related articles