Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction
SourceMolecular Genetics and Metabolism, 120, 4, (2017), pp. 337-341
Article / Letter to editor
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Paediatrics - OUD tm 2017
Molecular Genetics and Metabolism
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