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The Lancet, 2008
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. The consequent abnormal accumulation of glycosphingolipids results in several clinical signs and symptoms and substantial morbidity and mortality.
Yuri A, Zarate, Robert J, Hopkin
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Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. The consequent abnormal accumulation of glycosphingolipids results in several clinical signs and symptoms and substantial morbidity and mortality.
Yuri A, Zarate, Robert J, Hopkin
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Clinical Genetics, 1989
Fifteen hemizygotes and 30 heterozygotes have been diagnosed since our investigations of Fabry's disease were started 10 years ago. They belong mainly to three Danish families. Genetic counseling and prenatal diagnoses have been performed, and in vitro studies of cultured fibroblasts and endothelial cells have been made with special reference to enzyme
L, Hasholt, A, Wandall, S A, Sørensen
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Fifteen hemizygotes and 30 heterozygotes have been diagnosed since our investigations of Fabry's disease were started 10 years ago. They belong mainly to three Danish families. Genetic counseling and prenatal diagnoses have been performed, and in vitro studies of cultured fibroblasts and endothelial cells have been made with special reference to enzyme
L, Hasholt, A, Wandall, S A, Sørensen
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Drugs of Today, 2006
Fabry disease is an inherited enzyme deficiency of galactosidase A that results in various phenotypes: classic, cardiac or renal. It can present variably and may represent an important cause of occult neurological and cardiac syndromes and renal failure.
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Fabry disease is an inherited enzyme deficiency of galactosidase A that results in various phenotypes: classic, cardiac or renal. It can present variably and may represent an important cause of occult neurological and cardiac syndromes and renal failure.
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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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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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Cornea, 2009
To report the case of a patient with Fabry disease (FD) whose ocular presentation with chronic chemosis we feel is related to FD and to describe the conjunctival fluorescein angiographic findings.A 51-year-old male patient with FD on enzyme replacement therapy presented with 1-month chemosis and mild irritation in the left eye.
Jayson D, Edwards +3 more
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To report the case of a patient with Fabry disease (FD) whose ocular presentation with chronic chemosis we feel is related to FD and to describe the conjunctival fluorescein angiographic findings.A 51-year-old male patient with FD on enzyme replacement therapy presented with 1-month chemosis and mild irritation in the left eye.
Jayson D, Edwards +3 more
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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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The Journal of Pediatrics, 2010
To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis.We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females. We interviewed the patients, their mothers, or both regarding symptoms,
Cintia L, Marchesoni +9 more
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To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis.We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females. We interviewed the patients, their mothers, or both regarding symptoms,
Cintia L, Marchesoni +9 more
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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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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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