ReviewCholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
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Key words
Cholesteryl ester storage disease
Lysosomal acid lipase deficiency
Microvesicular steatosis
Micronodular cirrhosis
Non-alcoholic fatty liver disease (NAFLD)
Non-alcoholic steatohepatitis
Type 2b dyslipidemia
Elevated serum transaminases
Hepatomegaly
Lysosomal storage disease
Abbreviations
CESD
cholesteryl ester storage disease
WD
Wolman disease
LAL
lysosomal acid lipase
LIPA
lysosomal acid lipase gene
NAFLD
non-alcoholic fatty liver disease
NASH
non-alcoholic steatohepatitis
ALT
alanine aminotransferase
AST
aspartate aminotransferase
HMG-CoA
3-hydroxy-3-methylglutaryl coenzyme A
ApoB
apolipoprotein B
ABCA1
ATP binding cassette transporter 1
E8SJM
exon 8 splice-junction mutation
ERT
enzyme replacement therapy
LAMP
lysosomal associated membrane protein
LIMP
lysosomal integral membrane
CHO
Chinese hamster ovary
rhLAL
recombinant human LAL
CE
cholesteryl ester
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Copyright © 2013 European Association for the Study of the Liver. Published by Elsevier Ireland Ltd.