Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease
Manisha Balwani, Catherine Breen, Gregory M. Enns, Patrick B. Deegan, Tomas Honzík, Simon Jones, John P. Kane, Vera Malinova, Reena Sharma, Eveline O. Stock, Vassili Valayannopoulos, J. Edmond Wraith, Jennifer Burg, Stephen Eckert, Eugene Schneider, Anthony G. Quinn – 24 January 2013 – Cholesteryl ester storage disease (CESD), an inherited deficiency of lysosomal acid lipase (LAL), is an underappreciated cause of progressive liver disease with no approved therapy. Presenting features include dyslipidemia, elevated transaminases, and hepatomegaly.