Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: Identification of a novel GPIHBP1 mutation

Journal of Internal Medicine

Volumn 270, Issue 3, 2011, Pages 224-228

  Coca Prieto, I ^a   Kroupa, O ^b   Gonzalez Santos, P ^a   Magne, J ^c   Olivecrona, G ^b   Ehrenborg, E ^c   Valdivielso, P ^a  

^a UNIVERSITY OF MÁLAGA   (Spain)

^b UMEÅ UNIVERSITY   (Sweden)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Chylomicronaemia syndrome; GPIHBP1; Lipoprotein lipase; Mutations

Indexed keywords

BINDING PROTEIN; CHYLOMICRON; GLYCOPROTEIN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED HIGH DENSITY LIPOPROTEIN BINDING PROTEIN 1; LIPOPROTEIN LIPASE; UNCLASSIFIED DRUG; VERY LOW DENSITY LIPOPROTEIN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME STABILITY; EXON; FEMALE; GENE IDENTIFICATION; HOMOZYGOSITY; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; HYPERTRIGLYCERIDEMIA; MALE; MISSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL;

AGE OF ONSET; CARRIER PROTEINS; CHILD; CHYLOMICRONS; EXONS; FEMALE; HOMOZYGOTE; HUMANS; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN LIPASE; MALE; MUTATION, MISSENSE; SYNDROME;

EID: 79960633816     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/j.1365-2796.2011.02361.x     Document Type: Article

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