Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)Gert Matthijs, Bryan Winchester, Hudson H. Freeze et al.|Human Mutation|2000Cited by 163
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1ASøren K. Kjærgaard, Flemming Skovby, B. Kristiansson et al.|Acta Paediatrica|1998Cited by 58