Article
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
American journal of respiratory and critical care medicine - 1 Mar 1998
Santamaria F, Parenti G, Guidi G, Filocamo M, Strisciuglio P, Grillo G, Farina V, Sarnelli P, Rizzolo M G, Rotondo A, Andria G
Abstract excerpt
Pulmonary disease is a complication of Gaucher disease (GD), a lysosomal disorder due to the deficiency of glucocerebrosidase. Lung involvement was investigated through chest radiography, high-resolution computed tomography of the chest, pulmonary function tests (PFT), and oxygen saturation (SaO2) at 21% FI(O2) in 13 Italian GD patients, six homoallelic for the L444P mutation (Group A), seven with various...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.