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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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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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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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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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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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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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Journal of Neurology, 2011
Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age.
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Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age.
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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.
openaire +2 more sources