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Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-00823-8
Abstract: Cytosolic PEPCK deficiency (PCKDC) is a rare autosomal recessive inborn error of metabolism, which can present with hypoglycemia, lactic acidosis, and liver failure. It is caused by biallelic pathogenic variants in the PCK1 gene. Only…
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Keywords:
pck1 gene;
cytosolic pepck;
variants pck1;
failure ... See more keywords