ArticleEuropean journal of pediatrics2004
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
Article in European journal of pediatrics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 12 citations in OpenAlex.
- Low circulating PCSK9 levels inFrontiers in genetics · 2022Article
- Rare LPL gene missense mutation in an infant with hypertriglyceridemia.Journal of clinical laboratory analysis · 2018Article
- Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.JIMD reports · 2014Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledA 32-day-old girl with massive hypertriglyceridaemia and clinical signs of chylomicronaemia syndrome is described. Genetic study of the patient revealed compound heterozygosity for a common lipoprotein lipase gene mutation (G188E) and a novel missense mutation (M301R), consistent with reduced post-heparin plasma lipoprotein lipase immunoreactive mass observed.
conclusionto the best of our knowledge, this is the first description of a patient with a M301R mutation in the lipoprotein lipase gene. In addition, dietary therapy with medium-chain triglycerides was successful supporting the effectiveness of this therapeutic approach in familial chylomicronaemia syndrome.
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