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Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B. [PDF]
Mol Genet Metab RepCifuentes-Uribe K +6 more
europepmc +1 more source
Olipudase Alfa: First Approval
Drugs, 2022 Olipudase alfa (XENPOZYME®) is a recombinant human acid sphingomyelinase that has been developed by Sanofi, for the treatment of acid sphingomyelinase deficiency (ASMD). Olipudase alfa catalyses the hydrolysis of sphingomyelin accumulated in hepatocytes and in mononuclear-macrophage cells, such as the lungs, liver, spleen, kidneys and bone marrow ...
Susan J Keam
exaly +4 more sources
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results [PDF]
Genetics in Medicine, 2022 Purpose: This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults.
Roberto Giugliani +2 more
exaly +6 more sources
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American Journal of Medical Genetics Part A
ABSTRACT Acid sphingomyelinase deficiency (ASMD), or Niemann–Pick disease types A, B, and A/B, is a rare lysosomal storage disorder caused by SMPD1 mutations. Clinical forms range from severe neurovisceral (type A) to chronic visceral (type B), mainly affecting the liver, spleen, and lungs.
Breno Bopp Antonello +6 more
openaire +2 more sources
ABSTRACT Acid sphingomyelinase deficiency (ASMD), or Niemann–Pick disease types A, B, and A/B, is a rare lysosomal storage disorder caused by SMPD1 mutations. Clinical forms range from severe neurovisceral (type A) to chronic visceral (type B), mainly affecting the liver, spleen, and lungs.
Breno Bopp Antonello +6 more
openaire +2 more sources