Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease.

JL Goldstein, S E Dana, JR Faust et al. · Journal of Biological Chemistry · 1975 · 395 citations · Full text

Life Sciences, Biochemistry, Cell Biology +17

Genetic and Biochemical Evidence That CESD and Wolman Disease Are Distinguished by Residual Lysosomal Acid Lipase Activity

Charalampos Aslanidis, Stefan Ries, Petra Fehringer et al. · Genomics · 1996 · 163 citations

Life Sciences, Biochemistry, Genetics +13

Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.

Richard A. Anderson, G N Sando · Journal of Biological Chemistry · 1991 · 145 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Characterization of Lysosomal Acid Lipase by Site-directed Mutagenesis and Heterologous Expression

Sulaiman Sheriff, Hong Du, Gregory A. Grabowski · Journal of Biological Chemistry · 1995 · 131 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17