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    Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth

    Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth by Daniel Burg, Gheona Altarescu, Stanley Korman, Eyal Shteyer, Dalit May

    Published 2025-03-01
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