1. Wiggs, Janey L, Pasquale, Louis R. . Genetics of glaucoma. In Human molecular genetics, 26, R21-R27. doi:10.1093/hmg/ddx184. https://pubmed.ncbi.nlm.nih.gov/28505344/
2. Martinez-Monseny, Antonio, Cuadras, Daniel, Bolasell, Mercè, Pérez, Belén, Serrano, Mercedes. 2018. From gestalt to gene: early predictive dysmorphic features of PMM2-CDG. In Journal of medical genetics, 56, 236-245. doi:10.1136/jmedgenet-2018-105588. https://pubmed.ncbi.nlm.nih.gov/30464053/
3. Demirbilek, Hüseyin, Hussain, Khalid. 2017. Congenital Hyperinsulinism: Diagnosis and Treatment Update. In Journal of clinical research in pediatric endocrinology, 9, 69-87. doi:10.4274/jcrpe.2017.S007. https://pubmed.ncbi.nlm.nih.gov/29280746/
4. Gámez, Alejandra, Serrano, Mercedes, Gallego, Diana, Vilas, Alicia, Pérez, Belén. 2020. New and potential strategies for the treatment of PMM2-CDG. In Biochimica et biophysica acta. General subjects, 1864, 129686. doi:10.1016/j.bbagen.2020.129686. https://pubmed.ncbi.nlm.nih.gov/32712172/
5. Moreno Macián, Francisca, De Mingo Alemany, Carmen, León Cariñena, Sara, Martinez Castellano, Francisco, Albiach Mesado, Vicente. 2020. Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia. In Journal of pediatric endocrinology & metabolism : JPEM, 33, 1283-1288. doi:10.1515/jpem-2020-0168. https://pubmed.ncbi.nlm.nih.gov/32841164/
6. Giri, Dinesh, Hawton, Katherine, Senniappan, Senthil. 2021. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management. In Journal of pediatric endocrinology & metabolism : JPEM, 35, 279-296. doi:10.1515/jpem-2021-0369. https://pubmed.ncbi.nlm.nih.gov/34547194/
7. Vaes, Laurien, Rymen, Daisy, Cassiman, David, Morava, Eva, Witters, Peter. 2021. Genotype-Phenotype Correlations in PMM2-CDG. In Genes, 12, . doi:10.3390/genes12111658. https://pubmed.ncbi.nlm.nih.gov/34828263/
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