New mutations in the lipoprotein lipase gene in a young boy with chylomicronaemia syndrome and in his family

Acta Paediatrica, International Journal of Paediatrics

Volumn 92, Issue 5, 2003, Pages 621-624

  Brites, F ^a   Henriksen, F ^b   Fernandez K ^a   Brusgaard, K ^b   Castro, G ^c   Wikinski, R ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c INSTITUT PASTEUR DE LILLE   (France)

Author keywords

Chylomicronaemia; Hypertriglyceridaemia; Lipoprotein lipase; Mutations

Indexed keywords

CHYLOMICRON; FAT; LIPOPROTEIN; LIPOPROTEIN LIPASE; MEDIUM CHAIN TRIACYLGLYCEROL; NUCLEOTIDE; TRIACYLGLYCEROL;

AMINO ACID COMPOSITION; ARTICLE; BIOCHEMISTRY; CASE REPORT; CHYLOMICRONEMIA SYNDROME; CLINICAL FEATURE; DIET THERAPY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME ANALYSIS; EXON; FAMILY STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; INBORN ERROR OF METABOLISM; LIPID ANALYSIS; LOW FAT DIET; MALE; MASS; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION;

EID: 0042421959     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2003.tb02517.x     Document Type: Article

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