A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

European Journal of Human Genetics

Volumn 22, Issue 10, 2014, Pages 1229-1232

  Joshi, Mugdha ^a   Eagan, Jacqueline ^a   Desai, Nirav K ^a   Newton, Stephanie A ^a   Towne, Meghan C ^a   Marinakis, Nicholas S ^a   Esteves, Kristyn M ^a   De Ferranti, Sarah ^a   Bennett, Michael J ^b   McIntyre, Adam ^c   Beggs, Alan H ^a   Berry, Gerard T ^a   Agrawal, Pankaj B ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c WESTERN UNIVERSITY   (Canada)

Author keywords

GPD1; hepatomegaly; hypertriglyceridemia; steatohepatitis

Indexed keywords

ACID LIPASE; ALANINE AMINOTRANSFERASE; APOLIPOPROTEIN A1; APOLIPOPROTEIN B; ASPARTATE AMINOTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE I; CARNITINE PALMITOYLTRANSFERASE II; CHOLESTEROL; DIHYDROXYACETONE PHOSPHATE; DNA; GAMMA GLUTAMYLTRANSFERASE; GLYCEROL 3 PHOSPHATE DEHYDROGENASE; GLYCEROL 3 PHOSPHATE DEHYDROGENASE 1; GLYCEROPHOSPHATE; LYSOSOME ENZYME; MEDIUM CHAIN TRIACYLGLYCEROL; NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; CARNITINE PALMITOYLTRANSFERASE 1A, HUMAN; GLYCEROL 3 PHOSPHATE DEHYDROGENASE (NAD);

ALLELE; ARTICLE; CASE REPORT; CATALYSIS; CHILD; DIET SUPPLEMENTATION; DNA SEQUENCE; ELECTROPHORESIS; EXOME; FAILURE TO THRIVE; FATHER; FEMALE; FREDRICKSON TYPE 5 HYPERLIPIDEMIA; GENE DELETION; GENE MUTATION; GENOTYPE; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERLIPIDEMIA; HYPERTRIGLYCERIDEMIA; LIVER BIOPSY; LIVER FUNCTION TEST; MISSENSE MUTATION; MOTHER; NONALCOHOLIC FATTY LIVER; OXIDATION REDUCTION REACTION; PRIORITY JOURNAL; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; TRIACYLGLYCEROL BLOOD LEVEL; WESTERN BLOTTING; WILD TYPE; COPY NUMBER VARIATION; FATTY LIVER; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; INFANT; METABOLISM; MUTATION;

CARNITINE O-PALMITOYLTRANSFERASE; CHILD; DNA COPY NUMBER VARIATIONS; FATTY LIVER; FEMALE; GENE DELETION; GENOME-WIDE ASSOCIATION STUDY; GLYCEROL-3-PHOSPHATE DEHYDROGENASE (NAD+); HEPATOMEGALY; HETEROZYGOTE; HUMANS; HYPERTRIGLYCERIDEMIA; INFANT; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84927077118     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.8     Document Type: Article

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