Results 111 to 120 of about 6,168 (166)

Structural bases of Wolman disease and cholesteryl ester storage disease

Molecular Genetics and Metabolism, 2012
To elucidate the bases of Wolman disease (WD) and cholesteryl ester storage disease (CESD) from the viewpoint of enzyme structure, we constructed a structural model of human lysosomal acid lipase (LAL) using molecular modeling software Modeller. The results revealed that the residues responsible for WD/CESD tend to be less solvent-accessible than ...
Toshihiro Suzuki, Kazuki Ohno
exaly   +3 more sources

Liver Transplantation for Cholesteryl Ester Storage Disease

Journal of Pediatric Gastroenterology and Nutrition, 1991
SummaryThis case describes a patient with cholesteryl ester storage disease who underwent liver transplantation for progressive cirrhosis, portal hypertension, ascites, and uncontrollable gastrointestinal bleeding. Four and one‐half years posttransplant, her growth improved, cholesterol levels have returned to normal, and she is clinically well except ...
George D Ferry
exaly   +3 more sources

Cholesteryl Ester Storage Disease: Case Report during Childhood

Pediatric and Developmental Pathology, 1999
Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3½-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.
Hasan Özen, Aysel Yüce, Figen Gurakan
exaly   +4 more sources

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