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Current Opinion in Neurology, 2011
This review discusses the literature on Fabry disease mainly in the domain of neurology with special attention to recent advancement.Fabry neuropathy is known as a length-dependent peripheral neuropathy affecting mainly the small myelinated (Aδ) fibers and unmyelinated (C) fibers.
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This review discusses the literature on Fabry disease mainly in the domain of neurology with special attention to recent advancement.Fabry neuropathy is known as a length-dependent peripheral neuropathy affecting mainly the small myelinated (Aδ) fibers and unmyelinated (C) fibers.
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Journal of the Neurological Sciences, 2014
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions.
Rima, El-Abassi +2 more
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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 α-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions.
Rima, El-Abassi +2 more
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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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Journal of Echocardiography, 2017
Fabry disease resulting from a deficiency of α-galactosidase A leads to the accumulation of globotriaosylceramide in various organs. Because the disease is an X-linked recessive disorder, males tend to develop more symptoms and more severe symptoms than females.
Toshinori Yuasa +10 more
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Fabry disease resulting from a deficiency of α-galactosidase A leads to the accumulation of globotriaosylceramide in various organs. Because the disease is an X-linked recessive disorder, males tend to develop more symptoms and more severe symptoms than females.
Toshinori Yuasa +10 more
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Pediatrics, 2005
Background. Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder.Objectives. To test the hypothesis that quality of life and sweating are decreased among pediatric patients with Fabry disease, compared with control subjects, and to provide quantitative natural history data and novel clinical end points for therapeutic trials ...
Markus, Ries +13 more
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Background. Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder.Objectives. To test the hypothesis that quality of life and sweating are decreased among pediatric patients with Fabry disease, compared with control subjects, and to provide quantitative natural history data and novel clinical end points for therapeutic trials ...
Markus, Ries +13 more
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Archives of Ophthalmology, 1965
Introduction Our knowledge of Fabry's disease, long made up of smatterings, has recently blossomed. Just prior to the onset of the 20th century Fabry described a 13-year-old German boy with a peculiar skin eruption characterized by small, dark purple lesions, which, though heavily concentrated in the area of the thighs and genitalia, were lightly ...
G L, Spaeth, P, Frost
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Introduction Our knowledge of Fabry's disease, long made up of smatterings, has recently blossomed. Just prior to the onset of the 20th century Fabry described a 13-year-old German boy with a peculiar skin eruption characterized by small, dark purple lesions, which, though heavily concentrated in the area of the thighs and genitalia, were lightly ...
G L, Spaeth, P, Frost
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Neurology, 1982
Previous reports of extensive lipid accumulation within neurons of the autonomic nervous system in Fabry disease suggest an anatomicopathologic basis for the peculiar pain, diminished sweating, and gastrointestinal symptoms experienced in this disorder.
W J, Cable, E H, Kolodny, R D, Adams
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Previous reports of extensive lipid accumulation within neurons of the autonomic nervous system in Fabry disease suggest an anatomicopathologic basis for the peculiar pain, diminished sweating, and gastrointestinal symptoms experienced in this disorder.
W J, Cable, E H, Kolodny, R D, Adams
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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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1995
Fabry’s disease (FD) is an X-linked recessive disorder. The onset of clinical symptoms usually occurs during childhood or adolescence, but may be as late as the third or fourth decade. Early manifestations consist of episodic pain in the extremities and a teleangiectatic scaly maculopapular rash called angiokeratoma corporis diffusum.
Marjo S. van der Knaap, Jacob Valk
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Fabry’s disease (FD) is an X-linked recessive disorder. The onset of clinical symptoms usually occurs during childhood or adolescence, but may be as late as the third or fourth decade. Early manifestations consist of episodic pain in the extremities and a teleangiectatic scaly maculopapular rash called angiokeratoma corporis diffusum.
Marjo S. van der Knaap, Jacob Valk
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