This is the first full-length textbook about Fabry disease. It covers pre-clinical studies, clinical findings, and management options. These are comprehensively presented for the medical practitioner as well as the interested non-medical reader.
This is the first full-length textbook about Fabry disease. It covers pre-clinical studies, clinical findings, and management options. These are compr...
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 valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is...
Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids....
