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Article

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

European journal of human genetics : EJHG - 1 Jun 2004

Sjarif Damayanti R, Hellerud Christina, van Amstel Johannes K Ploos, Kleijer Willem J, Sperl Wolfgang, Lacombe Didier, Sass Jõrn Oliver, Beemer Frits A, Duran Marinus, Poll-The Bwee Tien

Abstract excerpt

Four unrelated patients with glyceroluria ranging from 7 to 170 mmol/l were studied. The activity of glycerol kinase (GK) in cultured fibroblasts was determined with a specific enzyme assay and with two indirect methods, that is, incorporation into macromolecules of [(14)C] from [(14)C]glycerol and its oxidation to [(14)C]CO(2). Exon amplification and RT-PCR were used to identify mutations. In patient 1, with low...

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PMID: 15026783
DOI: 10.1038/sj.ejhg.5201172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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