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fabry disease		Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems. [ Articles | Books | Images | Discussion groups ]
Additional comments : (Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum) Free Full Text References First treatment for Fabry's disease. (Free Full Text) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. (Free Full Text) New therapeutic approaches for patients with Fabry disease. (Free Full Text) Fabry disease with few clinical signs and symptoms. (Free Full Text) Enzyme replacement therapy for Fabry disease: proving the clinical benefit. (Free Full Text) Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. (Free Full Text) Fabry's disease as a differential diagnosis of MS. (Free Full Text) Angiokeratoma corporis diffusum (Fabry disease). (Free Full Text) Cardiovascular manifestations of Fabry disease and the novel therapeutic strategies. (Free Full Text) Pediatric Fabry disease. (Free Full Text) Severe left ventricular hypertrophy in Anderson-Fabry disease. (Free Full Text) Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications. (Free Full Text) Cutaneous variant of angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum. (Free Full Text) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. (Free Full Text) Painful arm in syringomyelia and Fabry disease. (Free Full Text) Renal involvement in Anderson-Fabry disease. (Free Full Text) Images in cardiovascular medicine. Myocardial fibrosis in Fabry Disease demonstrated by multislice computed tomography: comparison with biopsy findings. (Free Full Text) Clinical presentation in female patients with Fabry disease. (Free Full Text) Early detection of Fabry cardiomyopathy by tissue Doppler imaging. (Free Full Text)

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