alpha galactosidase/mŕtvica

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Screening of Fabry Disease in Patients With GI Symptoms

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Fabry disease screening study in patients diagnosed with gastrointestinal tract (GIT) disease, i.e. with the diagnosis of non-infectious inflammatory bowel disease, functional dyspepsia or irritable bowel syndrome in particular, is a project designed as a pilot study of Centre for Fabry disease,

Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients With Antiphospholipid Syndrome.

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the investigators would like to assess the prevalence of Fabry in men and women aged 18-100 who were diagnosed with antiphospholipid syndrome in our departmental clinic in 2000-2017 It is very important to diagnose Fabri that then the treatment of patients can vary dramatically. The study will

Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease

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Fabry Disease (FD) is a rare X-linked lysosomal storage disorder (LSD) caused by mutations in the GLA gene coding for the enzyme alpha-galactosidase A (α-GAL A). As a consequence globotriaosylceramide (Gb3), the enzyme's substrate, is not metabolized efficiently. The result is progressive

Fabry Disease in Cerebrovascular Disease

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This is a cross-sectional, population-based study to identify Fabry disease in patients with early cerebrovascular involvement. Eligible patients are age above 18 years old (<=55 years old) with early cerebrovascular involvement and have provided inform consent. Patients who have been diagnosed

Biomarker for Patients With Fabry Disease (BioFabry)

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Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. Annual incidence is reported to be 1 in 80,000 live births but this figure may

Stroke in Korean Young Adults Study

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All consecutive patients who had their first-ever ischemic stroke symptoms within the previous month will be asked to enroll in the study. Baseline measurements will be assessed in all patients. Patients without language problems or life-threatening conditions will be asked to answer the structured

Fabry's Disease and Pregnancy (PREFAB)

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Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain

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Fabry disease (FD) is a rare X-linked multisytemic lysosomal disorder caused by alpha-galactosidase deficiency. Globotriaosylcéramide (Gb3) deposits are observed in almost all tissues examined. Signs of the disease appear earlier and are more severe in affected males than in females. Myocardiopathy,

Fabry and Cardiomyopathy (FaCard)

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Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. Progressive endothelial accumulation of glycosphingolipids accounts for the associated clinical abnormalities of skin, eye,

Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease

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Fabry disease is due to an alteration in the genetic material (DNA) that causes a deficiency of the alpha-galactosidase A enzyme. This enzyme aids in the breakdown and elimination of certain types of fatty substances called glycolipids. These glycolipids are normally present within the body in most

Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains

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Fabry Screening Study

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Fabry disease is an X-linked deficiency of alpha-galactosidase A resulting primarily in an accumulation of globotriaosylceramide (Gb3) in virtually all organs and systems. The main complications of Fabry disease are a 20-fold increased risk of ischemic stroke, cardiac disease including

Canadian Fabry Disease Initiative (CFDI) National Registry

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CFDI NATIONAL REGISTRY: Canada-Wide Patient Recruitment There are over 600 people in Canada known to have Fabry Disease. For more details about Fabry Disease, please refer to the "Brief Summary." The goals of this nation-wide study are as follows: 1. To maintain an established national registry

Vasodilation in Patients With Fabry's Disease

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Fabry disease is a systematic genetic disease in which patients have abnormal blood vessels, and leads to numerous complications including cerebrovascular strokes. The objective of this study is to test the hypothesis that patients with Fabry disease have abnormal endothelial-derived vasodilation.

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