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January 27, 2003Clinical Chemistry and Laboratory Medicine (CCLM)

Glycerol Metabolism and the Determination of Triglycerides –Clinical, Biochemical and Molecular Findings in Six Subjects

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Population

6 subjects

Design

Case_series

Authors

CHChristina HellerudABAlberto BurlinaCGCarlo Gabelli

Discussion

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Overview

Novel GK mutations may prompt blanked triglyceride assays in unexplained cases; leaves open utility of routine genetic testing.

Structured PICO

P
Population
6 subjects (4 cases of 'persistent hypertriglyceridemia' from an Italian population and 2 pediatric cases with high serum glycerol concentration)
I
Intervention
Molecular studies of the glycerol kinase (GK) and DAX1 genes
O
Outcome
Mutations in the glycerol kinase (GK) and DAX1 genessurrogate

Molecular studies identified novel mutations in the GK gene among subjects with falsely elevated triglycerides due to glycerol-kinase deficiency, highlighting the need for 'blanked' triglyceride assays.

Cite This Study

Hellerud et al. (2003) studied this question.

synapsesocial.com/papers/6a772012d2fa2470761ea924https://doi.org/10.1515/cclm.2003.009
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia1984 · 14 citations
  2. 2PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT1951 · 318,663 citations
  3. 3Isolation of the human Xp21 glycerol kinase gene by positional cloning1993 · 43 citations