Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2

Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research