Literature DB >> 21088081

Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression.

M Imbriaco1, G Messalli, G Avitabile, A Cuocolo, S Maurea, F Soscia, A Pisani.   

Abstract

Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the enzyme α-galactosidase A (α-Gal A) and subsequent cellular storage of the enzyme's substrate globotriaosylceramide (Gb3) and related glycosphingolipids. We report a case of Anderson-Fabry disease with cardiac involvement evaluated with cardiovascular MRI. Disease progression was observed despite enzyme replacement therapy.

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Year:  2010        PMID： 21088081      PMCID： PMC3473621          DOI： 10.1259/bjr/52065763

Source DB:  PubMed          Journal:  Br J Radiol        ISSN： 0007-1285            Impact factor:   3.039


  7 in total

1.  Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

Authors:  R O Brady; A E Gal; R M Bradley; E Martensson; A L Warshaw; L Laster
Journal:  N Engl J Med       Date:  1967-05-25       Impact factor: 91.245

2.  Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.

Authors:  K D MacDermot; A Holmes; A H Miners
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

Review 3.  Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

Authors:  Robert J Desnick; Roscoe Brady; John Barranger; Allan J Collins; Dominique P Germain; Martin Goldman; Gregory Grabowski; Seymour Packman; William R Wilcox
Journal:  Ann Intern Med       Date:  2003-02-18       Impact factor: 25.391

4.  Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.

Authors:  Ales Linhart; Christoph Kampmann; José L Zamorano; Gere Sunder-Plassmann; Michael Beck; Atul Mehta; Perry M Elliott
Journal:  Eur Heart J       Date:  2007-05-05       Impact factor: 29.983

5.  Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study.

Authors:  M Imbriaco; A Pisani; L Spinelli; A Cuocolo; G Messalli; E Capuano; M Marmo; R Liuzzi; B Visciano; B Cianciaruso; M Salvatore
Journal:  Heart       Date:  2009-04-15       Impact factor: 5.994

6.  Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

Authors:  William R Wilcox; Maryam Banikazemi; Nathalie Guffon; Stephen Waldek; Philip Lee; Gabor E Linthorst; Robert J Desnick; Dominique P Germain
Journal:  Am J Hum Genet       Date:  2004-05-20       Impact factor: 11.025

7.  Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.

Authors:  Frank Weidemann; Markus Niemann; Frank Breunig; Sebastian Herrmann; Meinrad Beer; Stefan Störk; Wolfram Voelker; Georg Ertl; Christoph Wanner; Jörg Strotmann
Journal:  Circulation       Date:  2009-01-19       Impact factor: 29.690
  7 in total
  5 in total

1.  First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease.

Authors:  Carmela Nappi; Michele Altiero; Massimo Imbriaco; Emanuele Nicolai; Caterina Anna Giudice; Marco Aiello; Claudio Tommaso Diomiaiuti; Antonio Pisani; Letizia Spinelli; Alberto Cuocolo
Journal:  Eur J Nucl Med Mol Imaging       Date:  2015-03-26       Impact factor: 9.236

Review 2.  The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Authors:  Dominique P Germain; Perry M Elliott; Bruno Falissard; Victor V Fomin; Max J Hilz; Ana Jovanovic; Ilkka Kantola; Aleš Linhart; Renzo Mignani; Mehdi Namdar; Albina Nowak; João-Paulo Oliveira; Maurizio Pieroni; Miguel Viana-Baptista; Christoph Wanner; Marco Spada
Journal:  Mol Genet Metab Rep       Date:  2019-02-06

Review 3.  Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future.

Authors:  Roberta Esposito; Ciro Santoro; Giulia Elena Mandoli; Vittoria Cuomo; Regina Sorrentino; Lucia La Mura; Maria Concetta Pastore; Francesco Bandera; Flavio D'Ascenzi; Alessandro Malagoli; Giovanni Benfari; Antonello D'Andrea; Matteo Cameli
Journal:  J Clin Med       Date:  2021-05-06       Impact factor: 4.241

Review 4.  Multimodality imaging approach to Fabry cardiomyopathy: Any role for nuclear cardiology?

Authors:  Wanda Acampa; Adriana D'Antonio; Massimo Imbriaco; Antonio Pisani; Alberto Cuocolo
Journal:  J Nucl Cardiol       Date:  2020-05-06       Impact factor: 3.872

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

Authors:  Antonio Pisani; Aurora Daniele; Carmela Di Domenico; Ersilia Nigro; Francesco Salvatore; Eleonora Riccio
Journal:  BMC Res Notes       Date:  2015-11-24
  5 in total

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