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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… Expand
National Institutes of Health

Papers overview

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Review
2018
Review
2018
  • Angela Sun
  • Annals of translational medicine
  • 2018
  • Corpus ID: 73426597
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme… Expand
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Highly Cited
2011
Highly Cited
2011
The importance of normal distribution is undeniable since it is an underlying assumption of many statistical procedures such as t… Expand
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Highly Cited
2008
Highly Cited
2008
Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A that affects males and shows… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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Highly Cited
2001
Highly Cited
2001
 
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Highly Cited
1983
Highly Cited
1983
We describe a new and highly effective optical frequency discriminator and laser stabilization system based on signals reflected… Expand
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Highly Cited
1967
Highly Cited
1967
FABRY'S disease is a hereditary systemic disorder that was first recognized in affected males as a disease characterized by… Expand
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