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Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of

Sigrid Skovby Olsen1, Anja Ernst2, Pia Sønderby Christensen3

  • 1Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.

Case Reports in Genetics
|September 5, 2025
PubMed

Keywords:
GBE1GSD type IVautosomal recessiveglycogen storage disease type IVisodisomyuniparental disomy

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