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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… 
National Institutes of Health

Related topics

Related topics

48 relations
ALPHA-D-GALACTOSIDASE ENZYMEAbdominal PainAnemiaAngina Pectoris

Broader (1)

Enzyme Deficiency

Narrower (1)

Fabry Disease, Cardiac Variant

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Fabry disease
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent… 
Highly Cited
2009
Highly Cited
2009
Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events: Natural History Data From the Fabry Registry
Background and Purpose— Stroke is a common and serious clinical manifestation of Fabry disease, an X-linked lysosomal storage… 
Highly Cited
2007
Highly Cited
2007
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
SummaryThe Fabry Registry is a global observational research platform established to define outcome data on the natural and… 
Review
2006
Review
2006
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A, and the subsequent… 
Highly Cited
2005
Highly Cited
2005
Silver nanowires as surface plasmon resonators.
We report on chemically prepared silver nanowires (diameters around 100 nm) sustaining surface plasmon modes with wavelengths… 
Highly Cited
2004
Highly Cited
2004
UvA-DARE ( Digital Academic Repository ) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or… 
Highly Cited
2003
Highly Cited
2003
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
BACKGROUND Fabry disease is an X-linked recessive lysosomal storage disease resulting from deficient alpha-galactosidase A (alpha… 
Review
2001
Review
2001
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
Editor—Anderson-Fabry disease (AFD) is a sphingolipid storage disorder resulting from the deficiency of the lysosomal enzyme… 
Highly Cited
2001
Highly Cited
2001
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially… 
Highly Cited
2001
Highly Cited
2001
α-Galactosidase A deficiency. Fabry disease
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