Imaging features of Fabry disease

Olivier Lidove; Isabelle Klein; Jean Daniel Lelièvre; Philippa Lavallée; Jean Michel Serfaty; Emmanuel Dupuis; Thomas Papo; Jean Pierre Laissy

doi:10.2214/AJR.05.0019

Imaging features of Fabry disease

Olivier Lidove, Isabelle Klein, Jean Daniel Lelièvre, Philippa Lavallée, Jean Michel Serfaty, Emmanuel Dupuis, Thomas Papo, Jean Pierre Laissy

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

OBJECTIVE. Our objective was to describe the various imaging patterns of Fabry disease, including cerebrovascular, renal, cardiac, and other organ involvement. Fabry disease, an X-linked inborn error of glycosphingolipid catabolism resulting from a deficient activity of the hydrolase α-galactosidase A, displays more complications in men than in heterozygous women. CONCLUSION. It is up to radiologists to evoke the diagnosis, help practitioners in treating patients early with enzyme replacement therapy, and monitor its efficacy.

Original language	English (US)
Pages (from-to)	1184-1191
Number of pages	8
Journal	American Journal of Roentgenology
Volume	186
Issue number	4
DOIs	https://doi.org/10.2214/AJR.05.0019
State	Published - Apr 2006
Externally published	Yes

Keywords

Brain
Cardiovascular disease
Fabry disease
Genetics
Renal disease

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging
Radiological and Ultrasound Technology

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10.2214/AJR.05.0019

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title = "Imaging features of Fabry disease",

abstract = "OBJECTIVE. Our objective was to describe the various imaging patterns of Fabry disease, including cerebrovascular, renal, cardiac, and other organ involvement. Fabry disease, an X-linked inborn error of glycosphingolipid catabolism resulting from a deficient activity of the hydrolase α-galactosidase A, displays more complications in men than in heterozygous women. CONCLUSION. It is up to radiologists to evoke the diagnosis, help practitioners in treating patients early with enzyme replacement therapy, and monitor its efficacy.",

keywords = "Brain, Cardiovascular disease, Fabry disease, Genetics, Renal disease",

author = "Olivier Lidove and Isabelle Klein and Leli{\`e}vre, {Jean Daniel} and Philippa Lavall{\'e}e and Serfaty, {Jean Michel} and Emmanuel Dupuis and Thomas Papo and Laissy, {Jean Pierre}",

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language = "English (US)",

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T1 - Imaging features of Fabry disease

AU - Lidove, Olivier

AU - Klein, Isabelle

AU - Lelièvre, Jean Daniel

AU - Lavallée, Philippa

AU - Serfaty, Jean Michel

AU - Dupuis, Emmanuel

AU - Papo, Thomas

AU - Laissy, Jean Pierre

PY - 2006/4

Y1 - 2006/4

N2 - OBJECTIVE. Our objective was to describe the various imaging patterns of Fabry disease, including cerebrovascular, renal, cardiac, and other organ involvement. Fabry disease, an X-linked inborn error of glycosphingolipid catabolism resulting from a deficient activity of the hydrolase α-galactosidase A, displays more complications in men than in heterozygous women. CONCLUSION. It is up to radiologists to evoke the diagnosis, help practitioners in treating patients early with enzyme replacement therapy, and monitor its efficacy.

AB - OBJECTIVE. Our objective was to describe the various imaging patterns of Fabry disease, including cerebrovascular, renal, cardiac, and other organ involvement. Fabry disease, an X-linked inborn error of glycosphingolipid catabolism resulting from a deficient activity of the hydrolase α-galactosidase A, displays more complications in men than in heterozygous women. CONCLUSION. It is up to radiologists to evoke the diagnosis, help practitioners in treating patients early with enzyme replacement therapy, and monitor its efficacy.

KW - Brain

KW - Cardiovascular disease

KW - Fabry disease

KW - Genetics

KW - Renal disease

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JO - American Journal of Roentgenology

JF - American Journal of Roentgenology

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Imaging features of Fabry disease

Abstract

Keywords

ASJC Scopus subject areas

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