Literatur

Adzick, N. S., De Leon, D. D., States, L. J., Lord, K., Bhatti, T. R., Becker, S. A., & Stanley, C. A. (2019). Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. J Pediatr Surg, 54(1), 27-32. doi:10.1016/j.jpedsurg.2018.10.030

Banerjee, I., Avatapalle, B., Padidela, R., Stevens, A., Cosgrove, K. E., Clayton, P. E., & Dunne, M. J. (2013). Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism. Clin Endocrinol (Oxf), 78(6), 803-813. doi:10.1111/cen.12153

Banerjee, I., Avatapalle, B., Petkar, A., Skae, M., Padidela, R., Ehtisham, S., Clayton, P. E. (2012). The association of cardiac ventricular hypertrophy with congenital hyperinsulinism. European journal of endocrinology / European Federation of Endocrine Societies, 167(5), 619-624. doi:10.1530/EJE-12-0632

Banerjee, I., Skae, M., Flanagan, S. E., Rigby, L., Patel, L., Didi, M., Clayton, P. E. (2011). The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. European journal of endocrinology / European Federation of Endocrine Societies, 164(5), 733-740. doi:10.1530/EJE-10-1136

Barthlen, W., Varol, E., Empting, S., Wieland, I., Zenker, M., Mohnike, W., . . . Mohnike, K. (2016). Surgery in Focal Congenital Hyperinsulinism (CHI) - The „Hyperinsulinism Germany International“ Experience in 30 Children. Pediatr Endocrinol Rev, 14(2), 129-137. doi:10.17458/PER.2016.BVE.Surgeryinfocal

Beltrand, J., Caquard, M., Arnoux, J. B., Laborde, K., Velho, G., Verkarre, V., de Lonlay, P. (2012). Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care, 35(2), 198-203. doi:10.2337/dc11-1296

Dardano, A., Daniele, G., Lupi, R., Napoli, N., Campani, D., Boggi, U., Miccoli, R. (2020). Nesidioblastosis and Insulinoma: A Rare Coexistence and a Therapeutic Challenge. Front Endocrinol (Lausanne), 11, 10. doi:10.3389/fendo.2020.00010

De Leon, D. D., & Stanley, C. A. (2007). Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab, 3(1), 57-68. doi:10.1038/ncpendmet0368

Drash, A., & Wolff, F. (1964). Drug Therapy in Leucine-Sensitive Hypoglycemia. Metabolism, 13, 487-492. doi:10.1016/0026-0495(64)90133-7

ElSheikh, A., & Shyng, S. L. (2023). KATP Channel Mutations in Congenital Hyperinsulinism: progress and challenges towards mechanism-based therapies. Frontiers in Endocrinology.

Empting, S., Palm, K., & Mohnike, K. (2021). Kongenitaler Hyperinsulinismus – Ursachenforschung und Therapie. Pädiatrie, 33(2), 40-44.

Gandhi, K. (2017). Approach to hypoglycemia in infants and children. Transl Pediatr, 6(4), 408-420. doi:10.21037/tp.2017.10.05

Gloyn, A. L., & Ellard, S. (2006). Defining the genetic aetiology of monogenic diabetes can improve treatment. Expert Opin Pharmacother, 7(13), 1759-1767. doi:10.1517/14656566.7.13.1759

Grand, K., Gonzalez-Gandolfi, C., Ackermann, A. M., Aljeaid, D., Bedoukian, E., Bird, L. M., . . . Kalish, J. M. (2019). Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. American journal of medical genetics. Part A, 179(4), 542-551. doi:10.1002/ajmg.a.61062

Lord, K., Radcliffe, J., Gallagher, P. R., Adzick, N. S., Stanley, C. A., & De Leon, D. D. (2015). High Risk of Diabetes and Neurobehavioral Deficits in Individuals With Surgically Treated Hyperinsulinism. J Clin Endocrinol Metab, 100(11), 4133-4139. doi:10.1210/jc.2015-2539

Ludwig, A., Enke, S., Heindorf, J., Empting, S., Meissner, T., & Mohnike, K. (2018). Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. Hormone research in paediatrics, 89(1), 1-6. doi:10.1159/000481774

Magge, S. N., Shyng, S. L., MacMullen, C., Steinkrauss, L., Ganguly, A., Katz, L. E., & Stanley, C. A. (2004). Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. J Clin Endocrinol Metab, 89(9), 4450-4456. doi:10.1210/jc.2004-0441

Maiorana, A., Lepri, F. R., Novelli, A., & Dionisi-Vici, C. (2022). Hypoglycaemia Metabolic Gene Panel Testing. Front Endocrinol (Lausanne), 13, 826167. doi:10.3389/fendo.2022.826167

Mannisto, J. M. E., Maria, M., Raivo, J., Kuulasmaa, T., Otonkoski, T., Huopio, H., & Laakso, M. (2020). Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism. J Clin Endocrinol Metab, 105(4). doi:10.1210/clinem/dgz271

McMahon, A. W., Wharton, G. T., Thornton, P., & De Leon, D. D. (2017). Octreotide use and safety in infants with hyperinsulinism. Pharmacoepidemiol Drug Saf, 26(1), 26-31. doi:10.1002/pds.4144

Mohnike, G. (1951). Klinische und experimental Daten zum Insulin-Glucagon-Problem. Klin Wochenschr, 29(39-40), 674. doi:10.1007/BF01483964

Mohnike, K., Wieland, I., Barthlen, W., Vogelgesang, S., Empting, S., Mohnike, W., Zenker, M. (2014). Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. Hormone research in paediatrics, 81(3), 156-168. doi:10.1159/000356905

Palladino, A. A., & Stanley, C. A. (2011). A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. Seminars in pediatric surgery, 20(1), 32-37. doi:10.1053/j.sempedsurg.2010.10.008

Pasquini, T. L. S., Mesfin, M., Schmitt, J., & Raskin, J. (2022). Global Registries in Congenital Hyperinsulinism. Front Endocrinol (Lausanne), 13, 876903. doi:10.3389/fendo.2022.876903

Raskin, J., Pasquini, T. L. S., Bose, S., Tallis, D., & Schmitt, J. (2022). Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism. Front Endocrinol (Lausanne), 13, 886552. doi:10.3389/fendo.2022.886552

Savarirayan, R., De Bergua, J. M., Arundel, P., McDevitt, H., Cormier-Daire, V., Saraff, V., Irving, M. (2022). Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. Ther Adv Musculoskelet Dis, 14, 1759720X221084848. doi:10.1177/1759720X221084848

Snider, K. E., Becker, S., Boyajian, L., Shyng, S. L., MacMullen, C., Hughes, N., Ganguly, A. (2013). Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab, 98(2), E355-363. doi:10.1210/jc.2012-2169

Stanley, C. A. (2009). Regulation of glutamate metabolism and insulin secretion by glutamate dehydrogenase in hypoglycemic children. The American journal of clinical nutrition, 90(3), 862S-866S. doi:10.3945/ajcn.2009.27462AA

Stanley, C. A. (2016). Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. J Clin Endocrinol Metab, 101(3), 815-826. doi:10.1210/jc.2015-3651

Stanley, C. A., Rozance, P. J., Thornton, P. S., De Leon, D. D., Harris, D., Haymond, M. W., Wolfsdorf, J. I. (2015). Re-evaluating „transitional neonatal hypoglycemia“: mechanism and implications for management. J Pediatr, 166(6), 1520-1525 e1521. doi:10.1016/j.jpeds.2015.02.045

Thornton, P. S., Stanley, C. A., & De Leon, D. D. (2022). Congenital Hyperinsulinism: An Historical Perspective. Hormone research in paediatrics, 95(6), 631-637. doi:10.1159/000526442

Thornton, P. S., Stanley, C. A., De Leon, D. D., Harris, D., Haymond, M. W., Hussain, K., Pediatric Endocrine, S. (2015). Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children. J Pediatr, 167(2), 238-245. doi:10.1016/j.jpeds.2015.03.057

Toda, N., Ihara, K., Kojima-Ishii, K., Ochiai, M., Ohkubo, K., Kawamoto, Y., Hara, T. (2017). Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. American journal of medical genetics. Part A, 173(2), 360-367. doi:10.1002/ajmg.a.38011

Tokarz, V. L., MacDonald, P. E., & Klip, A. (2018). The cell biology of systemic insulin function. J Cell Biol, 217(7), 2273-2289. doi:10.1083/jcb.201802095

Uppal, S., Blackburn, J., Didi, M., Shukla, R., Hayden, J., & Senniappan, S. (2019). Hepatoblastoma and Wilms‘ tumour in an infant with Beckwith-Wiedemann syndrome and diazoxide resistant congenital hyperinsulinism. Endocrinol Diabetes Metab Case Rep, 2019. doi:10.1530/EDM-18-0146

Vossschulte, H., Mohnike, K., Mohnike, K., Warncke, K., Akcay, A., Zenker, M., . . . Empting, S. (2022). Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus. J Endocr Soc, 6(6), bvac056. doi:10.1210/jendso/bvac056

Wald, M., Lawrenz, K., Luckner, D., Seimann, R., Mohnike, K., & Schober, E. (2002). Glucagon therapy as a possible cause of erythema necrolyticum migrans in two neonates with persistent hyperinsulinaemic hypoglycaemia. Eur J Pediatr, 161(11), 600-603. doi:10.1007/s00431-002-1022-9

Weinstein, D. A., Steuerwald, U., De Souza, C. F. M., & Derks, T. G. J. (2018). Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis. Pediatr Clin North Am, 65(2), 247-265. doi:10.1016/j.pcl.2017.11.005

Wieland, I., Schanze, I., Felgendreher, I. M., Barthlen, W., Vogelgesang, S., Mohnike, K., & Zenker, M. (2022). Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism. Front Endocrinol (Lausanne), 13, 1015244. doi:10.3389/fendo.2022.1015244

Yau, D., & Stanley, C. A. (2019). Diazoxide-Responsive Forms of Congenital Hyperinsulinism. In D. D. De Leon-Crutchlow & C. Stanley (Eds.), Congenital Hyperinsulinism, A Practical Guide to Diagnosis and Management.

Zenker, M., Mohnike, K., & Palm, K. (2023a). Syndromic forms of congenital hyperinsulinism. Front Endocrinol (Lausanne), 14, 1013874. doi:10.3389/fendo.2023.1013874