Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease with multisystem complications including neurodegeneration, hepatosplenomegaly, interstitial lung disease (ILD), bone marrow disease, and growth failure. Non-neurological manifestations of this disease are amenable to enzyme repl...
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| Main Authors: | Drew B. Sinha, William L. Simpson, Andrew Ting, Louise Bier, Mary Freeman, Lauren Mackenzie Mason, George A. Diaz, Jaya Ganesh |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000254 |
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