Litcius/Paper detail

Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake

Kimihiko Oishi, Casey M Siegel, Emalyn Cork, Hongjie Chen, Eri Imagawa

2020Journal of Human Genetics12 citationsDOI

Topics & Concepts

Missense mutationFailure to thriveMedicineHypoglycemiaLactic acidosisHyperinsulinemic hypoglycemiaMetabolic acidosisEndocrinologyInternal medicineBioinformaticsBiologyPhysiologyGeneticsGeneInsulinMutationGenomics and Rare DiseasesPancreatic function and diabetesMetabolism and Genetic Disorders
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake | Litcius