Article

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

2020-09-28

Abstract excerpt

<h4>Background: </h4> 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 manifestations leading to failure to thrive and death, usually by 6 months of age. We report results from 2 op...

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Literature Corpus work: b59357e4-7d27-533f-9ed1-0c5bb68a8244
DOI: 10.21203/rs.3.rs-45422/v2

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