Fabry Disease

• Corporate Author: SpringerLink (Online service)
• Other Authors: Elstein, Deborah (Editor), Altarescu, Gheona (Editor), Beck, Michael (Editor)
• Format: Electronic eBook
• Language: English
• Published: Dordrecht : Springer Netherlands : Imprint: Springer, 2010.
• Subjects: Medicine.; Human genetics.; Metabolic diseases.; Medicine & Public Health.; Metabolic Diseases.; Human Genetics.

Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart v...