1. 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/
2. 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/
3. 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/
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. Wu, Ruohao, Qiu, Kunyin, Li, Dongfang, Deng, Bingqing, Luo, Xiangyang. . [Analysis of PMM2 gene variant in an infant with congenital disorders of glycosylation type 1a]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 36, 314-317. doi:10.3760/cma.j.issn.1003-9406.2019.04.006. https://pubmed.ncbi.nlm.nih.gov/30950015/
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. Gϋemes, Maria, Rahman, Sofia Asim, Kapoor, Ritika R, Dattani, Mehul Tulsidas, Shah, Pratik. . Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management. In Reviews in endocrine & metabolic disorders, 21, 577-597. doi:10.1007/s11154-020-09548-7. https://pubmed.ncbi.nlm.nih.gov/32185602/