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Clinical Genetics, 2014
Fabry disease (FD) is an X‐linked disease in which mutations of the GLA gene result in a deficiency of the enzyme α‐galactosidase A and subsequent progressive, intralysosomal deposition of undegraded glycosphingolipid products, primarily globotriaosylceramide, in multiple organs.
PISANI, ANTONIO +6 more
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Fabry disease (FD) is an X‐linked disease in which mutations of the GLA gene result in a deficiency of the enzyme α‐galactosidase A and subsequent progressive, intralysosomal deposition of undegraded glycosphingolipid products, primarily globotriaosylceramide, in multiple organs.
PISANI, ANTONIO +6 more
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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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Neuropathy and Fabry's disease
Muscle & Nerve, 2004Fabry's disease is a multisystem disorder that is commonly associated with a painful, debilitating neuropathy. The common coexistence of arthralgias and an elevated erythrocyte sedimentation rate may lead to the misdiagnosis of a rheumatic condition. We report a 38-year-old man who was evaluated for progressive neuropathy and limb pain in the setting ...
David, Lacomis +2 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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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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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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British Journal of Dermatology, 1970
Summary— The symptoms of angiokeratoma corporis diffusum of Anderson-Fabry in 5 boys and 3 girls in one family and 4 young adult females in another family are described. The age of onset of symptoms and signs varies considerably. The importance of establishing the diagnosis in childhood is discussed.
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Summary— The symptoms of angiokeratoma corporis diffusum of Anderson-Fabry in 5 boys and 3 girls in one family and 4 young adult females in another family are described. The age of onset of symptoms and signs varies considerably. The importance of establishing the diagnosis in childhood is discussed.
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Chaperone Therapy in Fabry Disease
International Journal of Molecular Sciences, 2022Frank Weidemann, Ana Jovanović
exaly