1. Chang IJ, et al: https://pubmed.ncbi.nlm.nih.gov/30740408/
2. PMM2-CDG, NORD Rare Disease Database: https://rarediseases.org/rare-diseases/pmm2-cdg/
3. Chang IJ, et al: https://pubmed.ncbi.nlm.nih.gov/30740408/
4. Iyer S, et al: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899038/
5. Monin M-L, et al: https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-014-0207-4
6. NIH, Genetics Home Reference: https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/
7. Matthijs G, et al: https://www.nature.com/articles/ng0597-88