Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease

Pediatrics International

Volumn 39, Issue 6, 1997, Pages 643-646

  Tylki SzymaŃska, Anna ^a   Rujner, Jolanta ^a   Lugowska, Agnieszka ^a   Sawnor KorszyŃska, Danuta ^a   WoŹniewicz, Bogdan ^a   Czarnowska, ElŹbieta ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Cholesteryl ester storage disease; Fibrosis hepatis; Lysosomal acid lipase

Indexed keywords

CHOLESTEROL ESTER; TRIACYLGLYCEROL;

ACID LIPASE DEFICIENCY; ADOLESCENT; ARTICLE; CHILD; CHOLESTEROL ESTER STORAGE DISEASE; CHOLESTEROL METABOLISM; CLINICAL ARTICLE; ENZYME ACTIVITY; FEMALE; HEPATOSPLENOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; LIVER BIOPSY; MALE; PRIORITY JOURNAL; THIN LAYER CHROMATOGRAPHY; WOLMAN DISEASE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CHOLESTEROL ESTER STORAGE DISEASE; CHOLESTEROL ESTERS; FEMALE; HEPATOMEGALY; HUMANS; LIVER; MALE; SPLENOMEGALY; TRIGLYCERIDES;

EID: 0031442446     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.1997.tb03660.x     Document Type: Article

References (12)

1. Assmann G., Seedorf V. Acid lipase deficiency: Wolmann disease and cholesteryl ester storage disease. In: Scriver A., Beaudet W. Sly D. (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw Hill, Valle, 1995; 2563–87.
2. Gieselmann V. Lysosomal storage diseases. Biochim. Biophys. Acta. 1995; 1270: 103–36.
3. Elleder M., Ledvinova J., Cieslar P., Kuhn R. Subclinical course of cholesteryl ester storage disease (CESD) diagnosed in adulthood: Report on two cases with remarks on the nature of the liver storage process. Virchows Arch. A. Pathol. Anat. Histopathol. 1990; 416: 357–65.
4. Tylki-Szymańska A., Maciejko D., Woźniewicz B., Muszyńska B. Two cases of cholesteryl ester storage disease (CESD) acid lipase deficiency. Hepatogastroenterology 1987; 34: 98–9.
5. Di-Bisceglie AM, Ishak KG, Rabin L., Hoeg JM. Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin. Hepatology 1990; 11: 764–72.
6. Levy R., Ostlund RE Jr, Schoufeld G., Wong P., Semeukovich CF. Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy. J. Lipid. Res. 1992; 33: 1005–15.
7. Yokoyama S., McCoy E. Long-term treatment of a homozygous cholesteryl ester storage disease with combined cholestyramine and lovastatin. J. Inher. Metab. Dis. 1992; 15: 291–2.
8. Ferry GD, Whisennand HH, Finegold MJ, Alpert E., Glombicki A. Liver transplantation for cholesteryl ester storage disease. J. Pediatr. Gastroenterol. Nutr. 1991; 12: 376–8.
9. Martinez-Ibanez V., Iglesias J., Lloret J., Barat G., Boix J. Experiencia de 7 anos en el transplante hepatico pediatrico. Cir. Pediatr. 1993; 6: 7–10 (in Spanish, Engl. abstr.).
10. Young EP, Patrick A.D. Deficiency of acid esterase activity in Wolman's disease. Arch. Dis. Child. 1970; 45: 664–8.
11. Folch J., Lees M., Sloane-Stanley G.H. A simple method for the isolation and purification of total lipids from animal tissues. J. Biol. Chem. 1957; 226: 497–509.
12. Odievre M. Clinical presentation of metabolic liver disease. J. Inher. Metab. Dis. 1991; 14: 526–30.