Ontology highlight
ABSTRACT:
SUBMITTER: Valayannopoulos V
PROVIDER: S-EPMC4203712 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Valayannopoulos Vassili V Malinova Vera V Honzík Tomas T Balwani Manisha M Breen Catherine C Deegan Patrick B PB Enns Gregory M GM Jones Simon A SA Kane John P JP Stock Eveline O EO Tripuraneni Radhika R Eckert Stephen S Schneider Eugene E Hamilton Gavin G Middleton Michael S MS Sirlin Claude C Kessler Bruce B Bourdon Christopher C Boyadjiev Simeon A SA Sharma Reena R Twelves Chris C Whitley Chester B CB Quinn Anthony G AG
Journal of hepatology 20140630 5
<h4>Background & aims</h4>Lysosomal acid lipase deficiency is an autosomal recessive enzyme deficiency resulting in lysosomal accumulation of cholesteryl esters and triglycerides. LAL-CL04, an ongoing extension study, investigates the long-term effects of sebelipase alfa, a recombinant human lysosomal acid lipase.<h4>Methods</h4>Sebelipase alfa (1mg/kg or 3mg/kg) was infused every-other-week to eligible subjects. Safety and tolerability assessments, including liver function, lipid profiles and l ...[more]