Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations

Nutrition, Metabolism and Cardiovascular Diseases

Volumn 23, Issue 8, 2013, Pages 732-736

  Muntoni, Sa ^a,b   Wiebusch, H ^b   Jansen Rust, M ^b   Rust, S ^b   Schulte, H ^b   Berger, K ^b   Pisciotta, L ^e   Bertolini, S ^e   Funke, H ^b,d   Seedorf, U ^b   Assmann, G ^b,c  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^d FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^e UNIVERSITY OF GENOA   (Italy)

Author keywords

Cholesterol ester storage disease; E8SJM carriers; Genetic analysis; Lipids; Lysosomal acid lipase

Indexed keywords

CHOLESTEROL; CHOLESTEROL ESTERASE; LIPID; LYSOSOMAL ACID LIPASE;

ARTICLE; BLOOD; CARDIOVASCULAR DISEASE; CASE CONTROL STUDY; CAUCASIAN; CESD; CHOLESTEROL ESTER STORAGE DISEASE; E8SJM; E8SJM CARRIERS; EXON 8 SPLICE JUNCTION MUTATION; FEMALE; GENETIC ANALYSIS; GENETICS; GERMANY; HETEROZYGOTE; HUMAN; ITALY; LAL; MALE; MUTATION; PHENOTYPE; RISK FACTOR; SPAIN;

CESD; CHOLESTEROL ESTER STORAGE DISEASE; E8SJM; E8SJM CARRIERS; EXON 8 SPLICE JUNCTION MUTATION; GENETIC ANALYSIS; LAL; LIPIDS; LYSOSOMAL ACID LIPASE;

CARDIOVASCULAR DISEASES; CASE-CONTROL STUDIES; CHOLESTEROL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GERMANY; HETEROZYGOTE; HUMANS; ITALY; MALE; MUTATION; PHENOTYPE; RISK FACTORS; SPAIN; STEROL ESTERASE;

EID: 84880035792     PISSN: 09394753     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.numecd.2012.05.009     Document Type: Article

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