Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Päivi M Vieira,J. Cameron,E. Rahikkala,Riikka Keski‐Filppula,Linhua Zhang,S. Santra,A. Matthews,P. Myllynen,M. Nuutinen,J. Moilanen,R. Rodenburg,A. Rolfs,J. Uusimaa,C. V. van Karnebeek

Published 2017 in Molecular Genetics and Metabolism

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