1. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia);Matthijs;Hum. Mutat.,2000
2. The prevalence of PMM2-CDG in Estonia based on population carrier frequencies and diagnosed patients;Vals;JIMD Rep.,2017
3. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome);Matthijs;Nat. Genet.,1997
4. High residual activity of PMM2 in Patients’ fibroblasts: possible pitfall in the diagnosis of CDG-Ia (Phosphomannomutase deficiency);Grünewald;Am. J. Hum. Genet.,2001
5. D. J. Lefeber, H. H. Freeze, R. Steet, T. Kinoshita, «Congenital disorders of glycosylation», en Essentials of Glycobiology, 4th ed., A. Varki, R. D. Cummings, J. D. Esko, P. Stanley, G. W. Hart, M. Aebi, D. Mohnen, T. Kinoshita, N. H. Packer, J. H. Prestegard, R. L. Schnaar, P. H. Seeberger, Eds., Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press, 2022. Accedido: 4 de enero de 2023. [En línea]. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK579928/.