Browsing HMS Scholarly Articles by Author "Puga, Ana Cristina"
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Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency
Thurberg, Beth L.; Wasserstein, Melissa P.; Jones, Simon A.; Schiano, Thomas D.; Cox, Gerald F.; Puga, Ana Cristina (Wolters Kluwer Health, Inc, 2016)Acid sphingomyelinase deficiency (ASMD; Niemann-Pick disease type A and B) is a lysosomal storage disorder characterized by abnormal intracellular sphingomyelin (SM) accumulation. Prominent liver involvement results in ... -
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat
Kamath, Ravi S.; Lukina, Elena; Watman, Nora; Dragosky, Marta; Pastores, Gregory M.; Arreguin, Elsa Avila; Rosenbaum, Hanna; Zimran, Ari; Aguzzi, Rasha; Puga, Ana Cristina; Norfleet, Andrea M.; Peterschmitt, M. Judith; Rosenthal, Daniel I. (Springer Berlin Heidelberg, 2014)Objective: Eliglustat is an investigational oral substrate reduction therapy for Gaucher disease type 1 (GD1). Its skeletal effects were evaluated by prospective monitoring of bone mineral density (BMD), fractures, marrow ...