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Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jul 2004

Hellerud C, Wramner N, Erikson A, Johansson A, Samuelson G, Lindstedt S

Abstract excerpt

AIM: To follow two children with isolated glycerol kinase deficiency (GKD) with severe symptoms into adulthood. METHODS: The patients were followed during approximately 20 y and interviewed about symptoms, diet and physical activity. Fasting provocations, bicycle ergometer tests, dietary registrations, enzyme and mutation analysis were performed by standard protocols. RESULTS: The activity of glycerol kinase (GK)...

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PMID: 15303806

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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