Publications by authors named "E Z Jonkers"

Background: Development of cognitive skills and social responsiveness are areas of concern in children with 22q11.2 deletion syndrome (22q11DS). It remains unclear if the cognitive and social profiles and trajectories are syndrome-specific or similar to those of children with idiopathic intellectual disabilities (IID) with or without comorbid autism spectrum disorder (ASD).

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Unlabelled: Bile acid-CoA:amino acid N-acyltransferase (BAAT) conjugates bile salts to glycine or taurine, which is the final step in bile salt biosynthesis. In addition, BAAT is required for reconjugation of bile salts in the enterohepatic circulation. Recently, we showed that BAAT is a peroxisomal protein, implying shuttling of bile salts through peroxisomes for reconjugation.

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Unlabelled: Bile acids (BAs) are essential for fat absorption and appear to modulate glucose and energy metabolism. Colesevelam, a BA sequestrant, improves glycemic control in type 2 diabetes mellitus (T2DM). We aimed to characterize the alterations in BA metabolism associated with T2DM and colesevelam treatment and to establish whether metabolic consequences of T2DM and colesevelam are related to changes in BA metabolism.

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Bile acid kinetics involve the measurement of pool sizes and turnover rates of individual bile acids. The technique is based on isotope dilution and was first described in the 1950s using radioactive (14)C-labelled cholic acid (CA). It took until the 1970s before stable isotopes were introduced for this purpose ((13)C, (2)H) and isotope analysis methods were developed for CA and chenodeoxycholic acid (CDCA) applying gas chromatography/electron impact mass spectrometry.

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Background: Information about the extent of carbohydrate digestion and fermentation is critical to our ability to explore the metabolic effects of carbohydrate fermentation in vivo. We used cooked (13)C-labelled barley kernels, which are rich in indigestible carbohydrates, to develop a method which makes it possible to distinguish between and to assess carbohydrate digestion and fermentation.

Materials And Methods: Seventeen volunteers ingested 86 g (dry weight) of cooked naturally (13)C enriched barley kernels after an overnight fast.

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