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Joint Bone Spine, 2004
Fabry disease is an inherited deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha GalA) due to mutations in the Gal gene at Xq22. The result is intralysosomal accumulation of glycosphingolipids. In males who carry the mutation (1/40,000), severe multisystem disease develops in childhood or adolescence. Attacks of acute pain lasting a few
Charles, Masson +4 more
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Fabry disease is an inherited deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha GalA) due to mutations in the Gal gene at Xq22. The result is intralysosomal accumulation of glycosphingolipids. In males who carry the mutation (1/40,000), severe multisystem disease develops in childhood or adolescence. Attacks of acute pain lasting a few
Charles, Masson +4 more
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Pharmacology & Therapeutics, 2009
Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction ...
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Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction ...
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Electrocardiograms in Fabry's disease
Journal of Electrocardiology, 1982We studied the ECGs of 47 kindred members from three families with Fabry's disease. The control group (19) with normal plasma alpha-galactosidase levels had normal ECGs. Of the 12 affected males (mean age 15 years, plasma alpha-galactosidase levels less than 10% of normals), ten had ECG evidence of LVH, and five had ST-T wave changes.
K J, Sheth, J P, Thomas
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The Journal of Pediatrics, 2004
Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an inborn error of metabolism with profound clinical consequences. Patients with Fabry disease have a deficiency of α-galactosidase A (α-Gal A), the lysosomal enzyme responsible for the breakdown of globotriaosylceramide and related glycosphingolipids,
Robert J, Desnick, Roscoe O, Brady
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Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an inborn error of metabolism with profound clinical consequences. Patients with Fabry disease have a deficiency of α-galactosidase A (α-Gal A), the lysosomal enzyme responsible for the breakdown of globotriaosylceramide and related glycosphingolipids,
Robert J, Desnick, Roscoe O, Brady
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Journal of Neurology, 1993
This study was performed to characterize the frequency, clinical presentation and etiology of cerebrovascular complications in patients with Fabry's disease. Thirty-three patients (age range 6-64 years) with Fabry's disease were reviewed, eight (24%) of whom suffered cerebrovascular complications. All patients developed ischemic strokes involving small
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This study was performed to characterize the frequency, clinical presentation and etiology of cerebrovascular complications in patients with Fabry's disease. Thirty-three patients (age range 6-64 years) with Fabry's disease were reviewed, eight (24%) of whom suffered cerebrovascular complications. All patients developed ischemic strokes involving small
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Internal Medicine Journal, 2007
AbstractBackground: Fabry disease has diverse neurological manifestations, many of which influence morbidity and quality of life.Aims: The aim of the study was to document the clinical and subclinical neurological manifestations in a cohort of Australian patients with Fabry disease, using multiple clinical tools and a multidisciplinary approach ...
M, Low +7 more
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AbstractBackground: Fabry disease has diverse neurological manifestations, many of which influence morbidity and quality of life.Aims: The aim of the study was to document the clinical and subclinical neurological manifestations in a cohort of Australian patients with Fabry disease, using multiple clinical tools and a multidisciplinary approach ...
M, Low +7 more
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Cardiovascular Pathology, 2011
Fabry's disease (FD) is a rare X-linked recessive genetic disorder that leads to premature mortality as a result of renal, cardiovascular, or cerebrovascular complications. FD is caused by a deficiency of α-galactosidase A (alpha-Gal A), due to mutations in the GLA gene.
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Fabry's disease (FD) is a rare X-linked recessive genetic disorder that leads to premature mortality as a result of renal, cardiovascular, or cerebrovascular complications. FD is caused by a deficiency of α-galactosidase A (alpha-Gal A), due to mutations in the GLA gene.
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Revista Clínica Española (English Edition), 2018
Fabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidaseA. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidaseA.
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Fabry disease is an X-linked inborn disease caused by deficit of alpha-galactosidaseA. This results in accumulation of glycosphingolipids in all cells and tissues. All males should receive enzyme replacement treatment in case of very low or undetectable levels of alpha-galactosidaseA.
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The pathophysiology of Fabry disease
Revista Clínica Española (English Edition), 2018Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients.
S, Olivera-González +2 more
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The arthropathy of fabry disease
Arthritis & Rheumatism, 1979AbstractFabry disease, an X‐linked recessively inherited glycosphingolipidosis, results from defective activity of the lysosomal enzyme ceramide trihexosidase termed α‐galactosidase A (1). The cumulative deposition of the substrate ceramide trihexose (CTH) in various tissues accounts for the clinical manifestations of the disease (2).
K J, Sheth, G C, Bernhard
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