Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression

Massimo Imbriaco, G. Messalli, G. Avitabile, A. Cuocolo, S. Maurea, F. Soscia, A. Pisani

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
JournalBritish Journal of Radiology
Volume83
Issue number996
DOIs
Publication statusPublished - Dec 2010

Fingerprint

Fabry Disease
Disease Progression
Magnetic Resonance Imaging
Galactosidases
Enzyme Replacement Therapy
Glycosphingolipids
Enzymes
globotriaosylceramide

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

Imbriaco, M., Messalli, G., Avitabile, G., Cuocolo, A., Maurea, S., Soscia, F., & Pisani, A. (2010). Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression. British Journal of Radiology, 83(996). https://doi.org/10.1259/bjr/52065763

Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression. / Imbriaco, Massimo; Messalli, G.; Avitabile, G.; Cuocolo, A.; Maurea, S.; Soscia, F.; Pisani, A.

In: British Journal of Radiology, Vol. 83, No. 996, 12.2010.

Research output: Contribution to journalArticle

Imbriaco, M, Messalli, G, Avitabile, G, Cuocolo, A, Maurea, S, Soscia, F & Pisani, A 2010, 'Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression', British Journal of Radiology, vol. 83, no. 996. https://doi.org/10.1259/bjr/52065763
Imbriaco, Massimo ; Messalli, G. ; Avitabile, G. ; Cuocolo, A. ; Maurea, S. ; Soscia, F. ; Pisani, A. / Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression. In: British Journal of Radiology. 2010 ; Vol. 83, No. 996.
@article{153cba03de054b3dbee7a50a22a578c0,
title = "Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression",
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.",
author = "Massimo Imbriaco and G. Messalli and G. Avitabile and A. Cuocolo and S. Maurea and F. Soscia and A. Pisani",
year = "2010",
month = "12",
doi = "10.1259/bjr/52065763",
language = "English",
volume = "83",
journal = "British Journal of Radiology",
issn = "0007-1285",
publisher = "British Institute of Radiology",
number = "996",

}

TY - JOUR

T1 - Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression

AU - Imbriaco, Massimo

AU - Messalli, G.

AU - Avitabile, G.

AU - Cuocolo, A.

AU - Maurea, S.

AU - Soscia, F.

AU - Pisani, A.

PY - 2010/12

Y1 - 2010/12

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=78649866120&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78649866120&partnerID=8YFLogxK

U2 - 10.1259/bjr/52065763

DO - 10.1259/bjr/52065763

M3 - Article

C2 - 21088081

AN - SCOPUS:78649866120

VL - 83

JO - British Journal of Radiology

JF - British Journal of Radiology

SN - 0007-1285

IS - 996

ER -