Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

BACKGROUND: If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme activity. This very rare, rapidly progressive form of LAL-D results in severe man...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Vijay, Suresh, Brassier, Anais, Ghosh, Arunabha, Fecarotta, Simona, Abel, Florian, Marulkar, Sachin, Jones, Simon A.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7789691/
https://ncbi.nlm.nih.gov/pubmed/33407676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01577-4
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