alpha galactosidase/astènia

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[A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease].

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Fabry disease is an X-linked hereditary metabolic storage disorder, due to the deficiency in lysosomal alpha-galactosidase A, with the consequent glycosphingolipids accumulation, primarily globotriaosylceramide, at cellular level. Multiorganic involvement occurs progressively, leading to severe

A case of Fabry disease (alpha-galactosidase A deficiency).

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Fabry disease is a rare lipid storage disorder, often silent until adulthood. We report the case of a rural, primary care patient whose initial presentation was that of progressive weakness from anemia. The anemia was determined to be of renal origin, and led to a diagnosis of Fabry disease.

Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.

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A 30 year-old male patient with a history of Fabry's disease, was referred to hospital with symptoms of dizziness, hypotension and weakness. Fabry's disease had been diagnosed 2 years before, based on angiokeratoma and hypohidrosis on physical examination and complete lack of alpha-galactosidase A

Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII.

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This report describes a third mucopolysaccharidosis in animals: canine mucopolysaccharidosis VII. The affected dog was the offspring of a father-daughter mating. Weakness in the rear legs was evident at 8 weeks of age and became progressively worse. He had a large head, a shortened maxilla, and

Fabry disease presenting as bilateral medial medullary infarction with a "heart appearance" sign: a case report.

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The etiologic determinants of cryptogenic stroke remain a diagnostic challenge in clinical practice. Fabry disease (FD) is one of the monogenic causes of stroke that may remain unrecognized as a potential contributing causative factor, because of its rarity and difficulty in diagnosis.

[The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy].

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OBJECTIVE To explore the clinical characteristics of patients with inherited hypertrophic cardiomyopathy. METHODS The clinical characteristics, electrocardiogram, serum chemistry and diagnostic methods were retrospectively investigated in 5 patients with inherited hypertrophic

Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy.

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Both Fabry disease and Duchenne muscular dystrophy were confirmed by gene analysis in a Japanese boy. He developed muscle weakness at 4 years of age. A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining.

Chloroquine-induced lipidosis mimicking Fabry disease.

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Intracellular accumulation of phospholipids may be a consequence of inherited or acquired metabolic disorders. In Fabry disease, deficiency of alpha-galactosidase A results in storage of globotriasylceramide in numerous cells including endothelium, striated muscle (skeletal, cardiac), smooth muscle,

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