A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene

Journal of Clinical Lipidology

Volumn 9, Issue 2, 2015, Pages 265-270

  Buonuomo, Paola Sabrina ^a   Bartuli, Andrea ^a   Rabacchi, Claudio ^b   Bertolini, Stefano ^c   Calandra, Sebastiano ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

(GPIHBP1) glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1; Hypertriglyceridemia; Intravascular lipolysis; Lipoprotein lipase

Indexed keywords

GPIHBP1 PROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; GPIHBP1 PROTEIN, HUMAN; LIPOPROTEIN LIPASE; LIPOPROTEIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; DISEASE SEVERITY; ENTERIC FEEDING; EXON; FAMILIAL CHYLOMICRONEMIA; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC DISORDER; HETEROZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; INTRON; LOW FAT DIET; MISSENSE MUTATION; NEWBORN; PANCREATITIS; POINT MUTATION; PRIORITY JOURNAL; RISK FACTOR; TRIACYLGLYCEROL BLOOD LEVEL; DNA SEQUENCE; GENETIC ASSOCIATION; GENETICS; MUTATION; PATHOLOGY;

GENETIC ASSOCIATION STUDIES; HUMANS; HYPERTRIGLYCERIDEMIA; INFANT, NEWBORN; LIPOPROTEIN LIPASE; MUTATION; RECEPTORS, LIPOPROTEIN; SEQUENCE ANALYSIS, DNA;

EID: 84928825565     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2014.10.003     Document Type: Article

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