Fabry Disease

Known as: CERAMIDE TRIHEXOSIDE LIPOIDOSIS FABRYS DISEASE, CERAMIDE TRIHEXOSIDE LIPOIDOSIS <FABRYS DISEASE>, fabrys disease 
A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
In T. Metzinger & W. Wiese (Eds.). Philosophy and Predictive Processing: 1. Frankfurt am Main: MIND Group. doi: 10.15502… (More)
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Review
2016
Review
2016
R EIEW A R TCLE Abstract Optical absorbers find uses in a wide array of applications across the electromagnetic spectrum… (More)
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Review
2010
Review
2010
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent… (More)
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Highly Cited
2008
Highly Cited
2008
Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows… (More)
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Highly Cited
2006
Highly Cited
2006
The classic phenotype of Fabry disease, X-linked alpha -galactosidase A (alpha -Gal A) deficiency, has an estimated incidence of… (More)
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric… (More)
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Highly Cited
2001
Highly Cited
2001
CONTEXT Fabry disease is a metabolic disorder without a specific treatment, caused by a deficiency of the lysosomal enzyme alpha… (More)
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of… (More)
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Highly Cited
2001
Highly Cited
2001
OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially… (More)
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Highly Cited
1995
Highly Cited
1995
BACKGROUND Fabry's disease is considered very rare. Left ventricular hypertrophy is one of the common manifestations in adults… (More)
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