Results 201 to 210 of about 21,730 (244)
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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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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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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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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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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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British Journal of Dermatology, 2006
SUMMARY Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothclial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected
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SUMMARY Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothclial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected
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Fabry disease [Malattia di Fabry]
2006[No abstract available]
D. Innocenzi +5 more
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