Cognitive and Psychological Functioning in Fabry Disease

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Cognitive and psychological functioning in Fabry disease.

Fabry disease is an X-linked lysosomal storage disorder which can result in renal, cardiac, and cerebrovascular disease. Patients are at increased risk of stroke and neuroimaging studies note cerebrovascular pathology. This study provides a cognitive profile of a cohort of individuals with Fabry disease and investigates the impact of pain, age, renal, cardiac, and cerebrovascular functioning on...

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Fabry disease is a rare X-linked inborn error of the glycosphingolipid metabolism caused by deficient activity of lysosomal enzyme alpha-galactosidase A. It is characterized by progressive multisystemic involvement that leads to premature death due to major organ failure, particularly the kidneys and heart. It appears that the disease is underdiagnosed in patients with end-stage renal disease. ...

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ژورنال

عنوان ژورنال: Archives of Clinical Neuropsychology

سال: 2014

ISSN: 0887-6177,1873-5843

DOI: 10.1093/arclin/acu047