Hepatosplenomegalic lipidosis: What unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation

Journal of Hepatology

Volumn 31, Issue 4, 1999, Pages 741-746

  Dahl, Stephan Vom ^a   Harzer, Klaus ^b   Rolfs, Arndt ^c   Albrecht, Bettina ^c   Niederau, Claus ^a   Vogt, Christoph ^a   Weely, Sonja Van ^d   Aerts, Johannes ^d   Müller, Gerd ^e   Häussinger, Dieter ^a  

^a Division of Gastroenterology   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF ROSTOCK   (Germany)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

Atherosclerosis; Bone marrow; Hepatosplenomegaly; Hypercholesterolemia; Lysosomal storage disease; Niemann Pick disease; Sea blue histiocytes

Indexed keywords

ACID LIPASE; CHOLESTEROL ESTER; GLUCOSYLCERAMIDASE; LYSOSOME ENZYME; SPHINGOMYELIN PHOSPHODIESTERASE;

ADULT; ANEMIA; ARTICLE; ATHEROSCLEROSIS; BONE MARROW EXAMINATION; CASE REPORT; CHOLESTEROL ESTER STORAGE DISEASE; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HUMAN; HYPERCHOLESTEROLEMIA; LIPID ANALYSIS; LIPIDOSIS; LIPODYSTROPHY; NIEMANN PICK DISEASE; PRIORITY JOURNAL; SKIN FIBROBLAST;

EID: 0344980294     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(99)80356-0     Document Type: Article

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