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Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Xinying Hong1, Andrew C Edmondson2, Alanna Strong2

  • 1Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Molecular Genetics and Metabolism
|August 19, 2023
PubMed

Keywords:
ConsanguinityHereditary fructose intolerancePMM2-CDGSorbitolUnder-galactosylation

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