[1]	Giri D, Hawton K, Senniappan S. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management[J]. J Pediatr Endocrinol Metab, 2022, 35(3): 279-296. DOI: 10.1515/jpem-2021-0369 . https://www.ncbi.nlm.nih.gov/pubmed/34547194 Cited in this article [3]

[2]

Martino M, Sartorelli J, Gragnaniello V, et al. Congenital hyperinsulinism in clinical practice: from biochemical pathophysiology to new monitoring techniques[J]. Front Pediatr, 2022, 10: 901338. PMCID: PMC9538154. DOI: 10.3389/fped.2022.901338 . https://www.ncbi.nlm.nih.gov/pubmed/36210928 Cited in this article [1]

[3]	Banerjee I, Salomon-Estebanez M, Shah P, et al. Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia[J]. Diabet Med, 2019, 36(1): 9-21. PMCID: PMC6585719. DOI: 10.1111/dme.13823 . https://www.ncbi.nlm.nih.gov/pubmed/30246418 Cited in this article [1]

[4]

Yau D, Laver TW, Dastamani A, et al. Using referral rates for genetic testing to determine the incidence of a rare disease: the minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389[J]. PLoS One, 2020, 15(2): e0228417. PMCID: PMC7004321. DOI: 10.1371/journal.pone.0228417 . https://www.ncbi.nlm.nih.gov/pubmed/32027664 Cited in this article [1]

[5]	Galcheva S, Al-Khawaga S, Hussain K. Diagnosis and management of hyperinsulinaemic hypoglycaemia[J]. Best Pract Res Clin Endocrinol Metab, 2018, 32(4): 551-573. DOI: 10.1016/j.beem.2018.05.014 . https://www.ncbi.nlm.nih.gov/pubmed/30086874 Cited in this article [1]

[6]

Roeper M, Salimi Dafsari R, Hoermann H, et al. Risk factors for adverse neurodevelopment in transient or persistent congenital hyperinsulinism[J]. Front Endocrinol (Lausanne), 2020, 11: 580642. PMCID: PMC7793856. DOI: 10.3389/fendo.2020.580642 . https://www.ncbi.nlm.nih.gov/pubmed/33424766 Cited in this article [1]

[7]	Thornton PS, Stanley CA, De Leon DD. Congenital hyperinsulinism: an historical perspective[J]. Horm Res Paediatr, 2022, 95(6): 631-637. DOI: 10.1159/000526442 . https://www.ncbi.nlm.nih.gov/pubmed/36446321 Cited in this article [1]

[8]

Banerjee I, Raskin J, Arnoux JB, et al. Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families[J]. Orphanet J Rare Dis, 2022, 17(1): 61. PMCID: PMC8858501. DOI: 10.1186/s13023-022-02214-y . https://www.ncbi.nlm.nih.gov/pubmed/35183224 Cited in this article [1]

[9]	Worth C, Yau D, Salomon Estebanez M, et al. Complexities in the medical management of hypoglycaemia due to congenital hyperinsulinism[J]. Clin Endocrinol (Oxf), 2020, 92(5): 387-395. DOI: 10.1111/cen.14152 . https://www.ncbi.nlm.nih.gov/pubmed/31917867

[10]

Sivasubramanian M, Avari P, Gilbert C, et al. Accuracy and impact on quality of life of real-time continuous glucose monitoring in children with hyperinsulinaemic hypoglycaemia[J]. Front Endocrinol (Lausanne), 2023, 14: 1265076. PMCID: PMC10562688. DOI: 10.3389/fendo.2023.1265076 . https://www.ncbi.nlm.nih.gov/pubmed/37822600 Cited in this article [1]

[11]	程明, 王冬梅, 苏畅, 等. 儿童先天性高胰岛素血症的诊疗进展[J]. 中华实用儿科临床杂志, 2025, 40(4): 308-312. DOI: 10.3760/cma.j.cn101070-20240612-00364 . Cited in this article [1]

[12]	Sabi SH, Alzreqat RK, Almaaytah AM, et al. Genetic variations in hyperinsulinemic hypoglycemia: active versus inactive mutations[J]. Diabetes Metab Syndr Obes, 2024, 17: 4439-4452. PMCID: PMC11607999. DOI: 10.2147/DMSO.S482056 . https://www.ncbi.nlm.nih.gov/pubmed/39619217 Cited in this article [1]

[13]

Zhang W, Sang YM. Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism[J]. Orphanet J Rare Dis, 2021, 16(1): 467. PMCID: PMC8567654. DOI: 10.1186/s13023-021-02088-6 . https://www.ncbi.nlm.nih.gov/pubmed/34736508 Cited in this article [1]

[14]	Shah IA, Rashid R, Bhat A, et al. A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia[J]. Gene, 2023, 878: 147576. DOI: 10.1016/j.gene.2023.147576 . https://www.ncbi.nlm.nih.gov/pubmed/37336273 Cited in this article [1]

[15]	Boodhansingh KE, Rosenfeld E, Lord K, et al. Mosaic GLUD1 mutations associated with hyperinsulinism hyperammonemia syndrome[J]. Horm Res Paediatr, 2022, 95(5): 492-498. PMCID: PMC9671865. DOI: 10.1159/000526203 . https://www.ncbi.nlm.nih.gov/pubmed/35952631 Cited in this article [1]

[16]

Otonkoski T, Jiao H, Kaminen-Ahola N, et al. Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells[J]. Am J Hum Genet, 2007, 81(3): 467-474. PMCID: PMC1950828. DOI: 10.1086/520960 . https://www.ncbi.nlm.nih.gov/pubmed/17701893 Cited in this article [6]

[17]	Frampton R, Lewis D, Rahman Y, et al. Hypoglycaemia following physical exercise in a patient with novel SLC16A1 variant[J]. Eur J Endocrinol, 2025, 192(1): K1-K5. DOI: 10.1093/ejendo/lvae159 . https://www.ncbi.nlm.nih.gov/pubmed/39715334 Cited in this article [5]

[18]	Burman WJ, McDermott MT, Bornemann M. Familial hyperinsulinism presenting in adults[J]. Arch Intern Med, 1992, 152(10): 2125-2127. https://www.ncbi.nlm.nih.gov/pubmed/1358043 Cited in this article [1]

[19]	Meissner T, Otonkoski T, Feneberg R, et al. Exercise induced hypoglycaemic hyperinsulinism[J]. Arch Dis Child, 2001, 84(3): 254-257. PMCID: PMC1718690. DOI: 10.1136/adc.84.3.254 . https://www.ncbi.nlm.nih.gov/pubmed/11207177 Cited in this article [2]

[20]

Pullen TJ, Sylow L, Sun G, et al. Overexpression of monocarboxylate transporter-1 (SLC16A1) in mouse pancreatic β-cells leads to relative hyperinsulinism during exercise[J]. Diabetes, 2012, 61(7): 1719-1725. PMCID: PMC3379650. DOI: 10.2337/db11-1531 . https://www.ncbi.nlm.nih.gov/pubmed/22522610 Cited in this article [1]

[21]	Tosur M, Jeha GS. A novel intragenic SLC16A1 mutation associated with congenital hyperinsulinism[J]. Glob Pediatr Health, 2017, 4: 2333794X17703462. PMCID: PMC5406188. DOI: 10.1177/2333794X17703462 . https://www.ncbi.nlm.nih.gov/pubmed/28491926 Cited in this article [6]

[22]	徐子迪, 桑艳梅, 吴玉筠. SLC16A1基因突变致先天性高胰岛素血症一例临床分析[J]. 中华糖尿病杂志, 2018, 10(3): 234-236. DOI: 10.3760/cma.j.issn.1674-5809.2018.03.015 . Cited in this article [3]

[23]	Senniappan S, Shanti B, James C, et al. Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management[J]. Inherit Metab Dis,2012,35(4): 589-601. DOI: 10.1007/s10545-011-9441-2 . https://www.ncbi.nlm.nih.gov/pubmed/22231386 Cited in this article [1]

[24]

Morris ME, Felmlee MA. Overview of the proton-coupled MCT (SLC16A) family of transporters: characterization, function and role in the transport of the drug of abuse gamma-hydroxybutyric acid[J]. AAPS J, 2008, 10(2): 311-321. PMCID: PMC2574616. DOI: 10.1208/s12248-008-9035-6 . https://www.ncbi.nlm.nih.gov/pubmed/18523892 Cited in this article [1]

[25]	Felmlee MA, Jones RS, Rodriguez-Cruz V, et al. Monocarboxylate transporters (SLC16): function, regulation, and role in health and disease[J]. Pharmacol Rev, 2020, 72(2): 466-485. PMCID: PMC7062045. DOI: 10.1124/pr.119.018762 . https://www.ncbi.nlm.nih.gov/pubmed/32144120 Cited in this article [2]

[26]

Fisel P, Schaeffeler E, Schwab M. Clinical and functional relevance of the monocarboxylate transporter family in disease pathophysiology and drug therapy[J]. Clin Transl Sci, 2018, 11(4): 352-364. PMCID: PMC6039204. DOI: 10.1111/cts.12551 . https://www.ncbi.nlm.nih.gov/pubmed/29660777 Cited in this article [3]

[27]	Liu T, Han S, Yao Y, et al. Role of human monocarboxylate transporter 1 (hMCT1) and 4 (hMCT4) in tumor cells and the tumor microenvironment[J]. Cancer Manag Res, 2023, 15: 957-975. PMCID: PMC10487743. DOI: 10.2147/CMAR.S421771 . https://www.ncbi.nlm.nih.gov/pubmed/37693221 Cited in this article [1]

[28]

Duan Q, Zhang S, Wang Y, et al. Proton-coupled monocarboxylate transporters in cancer: from metabolic crosstalk, immunosuppression and anti-apoptosis to clinical applications[J]. Front Cell Dev Biol, 2022, 10: 1069555. PMCID: PMC9727313. DOI: 10.3389/fcell.2022.1069555 . https://www.ncbi.nlm.nih.gov/pubmed/36506099 Cited in this article [1]

[29]	Luo X, Li Z, Chen L, et al. Monocarboxylate transporter 1 in the liver modulates high-fat diet-induced obesity and hepatic steatosis in mice[J]. Metabolism, 2023, 143: 155537. DOI: 10.1016/j.metabol.2023.155537 . https://www.ncbi.nlm.nih.gov/pubmed/36933792 Cited in this article [1]

[30]	Bozacı AE, Ünal AT. Rare cause of ketolysis: monocarboxylate transporter 1 deficiency[J]. Turk J Pediatr, 2022, 64(4): 741-746. DOI: 10.24953/turkjped.2021.4915 . https://www.ncbi.nlm.nih.gov/pubmed/36082648 Cited in this article [1]

[31]

Ota S, Sakuraba H, Hiraga H, et al. Cyclosporine protects from intestinal epithelial injury by modulating butyrate uptake via upregulation of membrane monocarboxylate transporter 1 levels[J]. Biochem Biophys Rep, 2020, 24: 100811. PMCID: PMC7578528. DOI: 10.1016/j.bbrep.2020.100811 . https://www.ncbi.nlm.nih.gov/pubmed/33102812 Cited in this article [1]

[32]

Fu JM, Satterstrom FK, Peng M, et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism[J]. Nat Genet, 2022, 54(9): 1320-1331. PMCID: PMC9653013. DOI: 10.1038/s41588-022-01104-0 . https://www.ncbi.nlm.nih.gov/pubmed/35982160 Cited in this article [1]

[33]	Nessa A, Rahman SA, Hussain K. Hyperinsulinemic hypoglycemia: the molecular mechanisms[J]. Front Endocrinol (Lausanne), 2016, 7: 29. PMCID: PMC4815176. DOI: 10.3389/fendo.2016.00029 . https://www.ncbi.nlm.nih.gov/pubmed/27065949 Cited in this article [1]

[34]

Otonkoski T, Kaminen N, Ustinov J, et al. Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release[J]. Diabetes, 2003, 52(1): 199-204. DOI: 10.2337/diabetes.52.1.199 . https://www.ncbi.nlm.nih.gov/pubmed/12502513 Cited in this article [4]

[35]	Velde CD, Reigstad H, Tjora E, et al. Congenital hyperinsulinism[J]. Tidsskr Nor Laegeforen, 2023, 143(18): 1-10. DOI: 10.4045/tidsskr.23.0425 . https://www.ncbi.nlm.nih.gov/pubmed/38088279

[36]	中华医学会儿科学分会内分泌遗传代谢学组, 中华儿科杂志编辑委员会. 先天性高胰岛素血症性低血糖诊治专家共识（2022）[J]. 中华儿科杂志, 2023, 61(5): 412-417. DOI: 10.3760/cma.j.cn112140-20221031-00924 . https://www.ncbi.nlm.nih.gov/pubmed/37096260 Cited in this article [4]

[37]	De Leon DD, Arnoux JB, Banerjee I, et al. International guidelines for the diagnosis and management of hyperinsulinism[J]. Horm Res Paediatr, 2024, 97(3): 279-298. PMCID: PMC11124746. DOI: 10.1159/000531766 . https://www.ncbi.nlm.nih.gov/pubmed/37454648 Cited in this article [2]

[38]	Larsen AR, Brusgaard K, Christesen HT, et al. Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia[J]. Histol Histopathol, 2024, 39(7): 817-844. DOI: 10.14670/HH-18-709 . https://www.ncbi.nlm.nih.gov/pubmed/38305063 Cited in this article [1]

[39]	中华医学会儿科学分会内分泌遗传代谢学组, 中国医师协会青春期健康与医学专业委员会, 中国医师协会儿科内分泌遗传代谢学组, 等. 儿童先天性高胰岛素血症遗传检测和咨询专家共识（2023）[J]. 中华儿科杂志, 2023, 61(7): 594-599. DOI: 10.3760/cma.j.cn112140-20221220-01059 . https://www.ncbi.nlm.nih.gov/pubmed/37385801 Cited in this article [1]

[40]	Pullen TJ, Rutter GA. When less is more: the forbidden fruits of gene repression in the adult β-cell[J]. Diabetes Obes Metab, 2013, 15(6): 503-512. DOI: 10.1111/dom.12029 . https://www.ncbi.nlm.nih.gov/pubmed/23121289 Cited in this article [1]

[41]	Hermann HP, Pieske B, Schwarzmüller E, et al. Haemodynamic effects of intracoronary pyruvate in patients with congestive heart failure: an open study[J]. Lancet, 1999, 353(9161): 1321-1323. DOI: 10.1016/s0140-6736(98)06423-x . https://www.ncbi.nlm.nih.gov/pubmed/10218531 Cited in this article [1]

[42]

Denkboy Öngen Y, Eren E, Sağlam H. Maltodextrin may be a promising treatment modality after near-total pancreatectomy in infants younger than six months with persistent hyperinsulinism: a case report[J]. J Clin Res Pediatr Endocrinol, 2023, 15(1): 103-107. PMCID: PMC9976159. DOI: 10.4274/jcrpe.galenos.2021.2021.0121 . https://www.ncbi.nlm.nih.gov/pubmed/34477356 Cited in this article [1]

[43]

Skae M, Avatapalle HB, Banerjee I, et al. Reduced glycemic variability in diazoxide-responsive children with congenital hyperinsulinism using supplemental omega-3-polyunsaturated fatty acids; a pilot trial with MaxEPA(R.)[J]. Front Endocrinol (Lausanne), 2014, 5: 31. PMCID: PMC3952031. DOI: 10.3389/fendo.2014.00031 . https://www.ncbi.nlm.nih.gov/pubmed/24659984 Cited in this article [1]

[44]	Brar PC, Heksch R, Cossen K, et al. Management and appropriate use of diazoxide in infants and children with hyperinsulinism[J]. J Clin Endocrinol Metab, 2020, 105(12): dgaa543. DOI: 10.1210/clinem/dgaa543 . https://www.ncbi.nlm.nih.gov/pubmed/32810255 Cited in this article [1]

[45]	Newman-Lindsay S, Lakshminrusimha S, Sankaran D. Diazoxide for neonatal hyperinsulinemic hypoglycemia and pulmonary hypertension[J]. Children (Basel), 2022, 10(1): 5. PMCID: PMC9856357. DOI: 10.3390/children10010005 . https://www.ncbi.nlm.nih.gov/pubmed/36670556

[46]	Keyes ML, Healy H, Sparger KA, et al. Necrotizing enterocolitis in neonates with hyperinsulinemic hypoglycemia treated with diazoxide[J]. Pediatrics, 2021, 147(2): e20193202. PMCID: PMC7849198. DOI: 10.1542/peds.2019-3202 . https://www.ncbi.nlm.nih.gov/pubmed/33483452 Cited in this article [1]