Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed

• मुख्य लेखकों: Jagadish Jamboti (लेखक), Cynthia H Forrest (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Society of Diabetic Nephropathy Prevention, 2017-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Background: Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is oft...