SEBELIPASE ALFA IN CHILDREN AND ADULTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY: FINAL RESULTS OF THE ARISE STUDY.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of hepatology"
DOI: 10.1016/j.jhep.2021.10.026
Abstract: BACKGROUND & AIMS Children and adults with lysosomal acid lipase deficiency (LAL-D) experience cirrhosis and dyslipidemia from lysosomal accumulation of cholesteryl esters and triglycerides. Sebelipase alfa enzyme replacement therapy is indicated for individuals with LAL-D.… read more here.
Keywords: open label; sebelipase alfa; lysosomal acid; alfa ... See more keywords
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100479
Abstract: We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting… read more here.
Keywords: acid lipase; lysosomal acid; sebelipase alfa; patient ... See more keywords
Long-term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric gastroenterology and nutrition"
DOI: 10.1097/mpg.0000000000003452
Abstract: OBJECTIVES Sebelipase alfa is approved for treatment of lysosomal acid lipase deficiency (LAL-D). This single-arm, open-label study (NCT02112994) evaluated sebelipase alfa efficacy and safety in patients with LAL-D. METHODS Patients >8 months of age diagnosed with… read more here.
Keywords: treatment; sebelipase alfa; acid lipase; lysosomal acid ... See more keywords