Title : A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia - Mayanskiy_2019_JIMD.Rep_48_75 |
Author(s) : Mayanskiy N , Brzhozovskaya E , Pushkov A , Strokova T , Vlasov N , Surkov A , Gundobina O , Savostianov K |
Ref : JIMD Rep , 48 :75 , 2019 |
Abstract : |
PubMedSearch : Mayanskiy_2019_JIMD.Rep_48_75 |
PubMedID: 31392116 |
Gene_locus related to this paper: human-LIPA |