ASMD: Overview And Clinical Cases - by Prof. Roberto Giugliani
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). In this lecture, Prof. Roberto Giugliani, MD, PhD, will share an overview about ASMD clinical cases to know more about ho to spot this rare diseases.
Dr. Roberto Giugliani, Full Professor at the Department of Genetics of the Federal University of Rio Grande do Sul, is a medical geneticist who founded and is an active member of the Medical Genetics Service of the University Hospital, in Porto Alegre, Brazil. He also founded “House of Rares”, a Brazilian initiative for the care and diagnosis of patients with rare diseases.