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

Abstract 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 se...

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Detalhes bibliográficos

Principais autores:	Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2021-01-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Dyslipidemias Growth Wolman disease Lysosomal storage diseases Transaminases
Acesso em linha:	https://doi.org/10.1186/s13023-020-01577-4
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