Current perspectives on Stevens-Johnson syandrome and toxic epidermal necrolysis
Martini, D., Tassotti, M., Riso, P., Rio, D
195 LONG-TERM IMPROVEMENTS IN LIVER AND LIPID OUTCOMES IN ADULTS AND CHILDREN WITH ACID SPHINGOMYELINASE DEFICIENCY TREATED WITH OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY Beth Linda Thurberg 1 , Jaya Ganesh 2 , Roberto Guigliani 3 , Nathalie Guffon 4 , Robin Lachmann 5 , Eugen Mengel 6 , Maurizio Scarpa 7 , Melissa P Wasserstein 8 , Mario Aguiar 9 , Nicole Armstrong 9 and Monica Kumar 9 , (1)Beth Thurberg Orphan Science Consulting, LLC, (2)Mount Sinai School of Medicine, (3)Ufrgs, HCPA, Inagemp, DASA and Casa Dos Raros, (4)Centre De Rfrence Des Maladies Hrditaires Du Mtabolisme, Hpital Femme Mre Enfant- Hospices Civils De Lyon, (5)Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, (6)Sphincs Gmbh, Institute of Clinical Science for Lysosomal Storage, (7)Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, (8)Children's Hospital at Montefiore, Albert Einstein College of Medicine, (9)Sanofi Background: Acid sphingomyelinase deficiency (ASMD) is a progressive, multisystemic, and debilitating lysosomal storage disease
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