Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
Maren Goetz, Julian Schröter, Tal Dattner, Heiko Brennenstuhl, Dominic Lenz, Thomas Opladen, F Hörster, J G Okun, Georg F. Hoffmann, Stefan Kölker, Christian Staufner
Topics & Concepts
Phosphoenolpyruvate carboxykinaseGluconeogenesisBiologyGenotypeHypoglycemiaInternal medicineEndocrinologyPhenotypePopulationGeneticsMedicineBiochemistryEnzymeMetabolismGeneDiabetes mellitusEnvironmental healthGlycogen Storage Diseases and MyoclonusGenomics and Rare DiseasesCellular transport and secretion