Congenital Hyperinsulinism Research
Congenital hyperinsulinism research has been a decades-long focus at Children’s Hospital of Philadelphia (CHOP). Learn about our experts’ contributions to the understanding of HI and its treatment.
2023
Rosenfeld E*, Alzahrani O*, De León DD: Undiagnosed Hypoglycemia Disorders in Children Detected When Hypoglycemia Occurs in the Setting of Illness: A Retrospective Study. BMJ Paediatrics Open 7(1): e001842, Feb 2023 Notes: *co-first authors, ecollection.
Rosenfeld E, De León DD. Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism. Curr Opin Pediatr. 2023 Aug 1;35(4):486-493. doi: 10.1097/MOP.0000000000001243. Epub 2023 Mar 28. PMID: 36974442; PMCID: PMC10330427.
Stanley CA, Thornton PS, De Leon DD. New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia. Front Pediatr. 2023 Mar 10;11:1071206. doi: 10.3389/fped.2023.1071206. PMID: 36969273; PMCID: PMC10036912.
Juliana CA, Chai J, Arroyo P, Rico-Bautista E, Betz SF, De León DD. A selective nonpeptide somatostatin receptor 5 agonist effectively decreases insulin secretion in hyperinsulinism. J Biol Chem. 2023 Jun;299(6):104816. doi: 10.1016/j.jbc.2023.104816. Epub 2023 May 11. PMID: 37178920; PMCID: PMC10318504.
De Leon DD, Arnoux JB, Banerjee I, Bergadá I, Bhatti T, Conwell LS, Fu JF, Flanagan SE, Gillis D, Meissner T, Mohnike K, Pasquini TLS, Shah P, Stanley CA, Vella A, Yorifuji T, Thornton PS. International Guidelines for the Diagnosis and Management of Hyperinsulinism. Horm Res Paediatr. 2023 Jul 14. doi: 10.1159/000531766. Epub ahead of print. PMID: 37454648.
Reynolds D, Mitteer LM, Sigal W, Boyajian L, McKnight H, Bhatti T, States L, Becker S, Adzick NS, Lord K, De Leon DD. Novel Use of Dasiglucagon, a Soluble Glucagon Analog, for the Treatment of Hyperinsulinemic Hypoglycemia Secondary to Suspected Insulinoma: A Case Report. Horm Res Paediatr. 2023 Jul 14:1-8. doi: 10.1159/000531251. Epub ahead of print. PMID: 37454652.
Rosenfeld E, De Leon DD: Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism. Curr Opin Pediatr 35(4): 486-493, Aug 2023.
Peterson SM, Juliana CA, Hu CF, Chai J, Holliday C, Chan KY, Lujan Hernandez AG, Challocombe Z, Wang L, Han Z, Haas N, Stafford R, Axelrod F, Yuan TZ, De León DD, Sato AK. Optimization of a Glucagon-Like Peptide 1 Receptor Antagonist Antibody for Treatment of Hyperinsulinism. Diabetes. 2023 Sep 1;72(9):1320-1329. doi: 10.2337/db22-1039. PMID: 37358194; PMCID: PMC10450825.
Heather McKnight, Nicole Stewart: Challenges of a drug shortage. Journal of Pediatric Nursing. https://doi.org/10.1016/j.pedn.2023.10.031 2023 Nov 11
Li C, Juliana CA, Yuan Y, Li M, Lu M, Chen P, Boodhansingh KE, Doliba NM, Bhatti TR, Adzick NS, Stanley CA, De León DD. Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations. Diabetes. 2023 Dec 1;72(12):1809-1819. doi: 10.2337/db23-0465. PMID: 37725835; PMCID: PMC10658072.
2022
Boodhansingh KE, Yang Z, Li C, Chen P, Lord K, Becker SA, States LJ, Adzick NS, Bhatti T, Show-Ling S, Ganguly A, Stanley CA, De Leon DD: Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations. Eur J Endocrinol 187(2): 301-313, Jun 2022.
Rosenfeld E, Nanga RPR, Lucas A, Revell AY, Thomas A, Thomas NH, Roalf DR, Shinohara RT, Reddy R, Davis KA, De Leon DD: Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome. Orphanet J Rare Dis 17(1): 248, Jun 2022.
Stefanovski D, Vajravelu ME, Givler S, De Leon DD: Exendin-(9-39) effects on glucose and insulin in children with congenital hyperinsulinism during fasting and during a meal and a protein challenge Diabetes Care. 45(6): 1381-1390, June 2022.
Cuff H, Lord K, Ballester L, Scully T, Stewart N, De Leon DD: The use of lanreotide in the treatment of congenital hyperinsulinism. J Clin Endocrinol Metab 107(8): e3115-e3120, Jul 2022.
Boodhansingh KE, Rosenfeld E, Lord K, Adzick NS, Bhatti T, Ganguly A, De Leon DD, Stanley CA: Mosaic GLUD1 mutations associated with hyperinsulinism hyperammonemia syndrome. Horn Res Paediattr 95(5): 492-498, Aug 2022.
Sigal WM, Alzahrani O, Guadalupe GM, Guzman H, Radcliffe J, Thomas NH, Jawad AF, De Leon DD: Natural history and neurodevelopment outcomes in perinatal stress induced hyperinsulinism. Front Pediatr 10:999274: doi: 10.3389/fped.2022.999274. eCollection 2022. Oct 2022.
Rosenfeld E, Getz KD, Miller TP, Seif AE Fisher BT, Burrows E, Ramos MJ, De Leon DD, Alpen R, Morales KH, Guevara JP: Incidence and risk factors for hypoglycemia during maintenance chemotherapy in pediatric acute lymphoblastic leukemia. Pediatr Blood Cancer 69(6): e29467, 2022.
2021
Effect of sitagliptin on islet function in pancreatic insufficient cystic fibrosis with abnormal glucose tolerance. Kelly A, Sheikh S, Stefanovski D, Peleckis AJ, Nyirjesy SC, Eiel JN, Sidaye A, Localio R, Gallop R, De Leon DD, Hadjiliadis D, Rubenstein RC, Rickels MR. J Clin Endocrinol Metab. 2021;106(9):2617-34.
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only. Benner A, Alhaidan Y, Lines MA, Brusgaard K, De Leon DD, Sparkes R, Frederiksen AL, Christesen HT. Am J Med Genet A. 2021;185(10): 2959-75.
The biohormonal bionic pancreas improves glycemic control in individuals with hyperinsulinism and postpancreatectomy diabetes – a pilot study. Rayannavar A, Mitter LM, Balliro CA, El-Khatib FH, Lord KL, Hawkes CP, Ballester LS, Damiano ER, Russel SJ, De Leon DD. Diabetes Care. 2021;44(11):2582-5.
Gut Microbiome Profile After Pancreatectomy in Infants With Congenital Hyperinsulinism. Vajravelu ME, Lee JJ, Mitteer L, Zemel BS, Bittinger K, De León DD. Vajravelu ME, et al. Pancreas. 2021 Jan 1;50(1):89-92. doi: 10.1097/MPA.0000000000001708.Pancreas. 2021.
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease. Zeiad RKHM, Ferren EC, Young DD, De Lancy SJ, Dedousis D, Schillaci LA, Redline RW, Saab ST, Crespo M, Bhatti TR, Ackermann AM, Bedoyan JK, Wood JR, Zeiad RKHM, et al. J Endocr Soc. 2021 Jan 2;5(2):bvaa196. doi: 10.1210/jendso/bvaa196. eCollection 2021 Feb 1.J Endocr Soc. 2021.
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas. Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R.Sheppard SE, et al. Am J Med Genet A. 2021 Feb;185(2):566-570. doi: 10.1002/ajmg.a.61978. Epub 2020 Nov 30.Am J Med Genet A. 2021.
2020
Surgical treatment of congenital hyperinsulinism. Scott Adzick N. Semin Pediatr Surg. 2020 Jun;29(3):150924. doi: 10.1016/j.sempedsurg.2020.150924. Epub 2020 May 17.Semin Pediatr Surg. 2020.
Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model. Soundarapandian MM, Juliana CA, Chai J, Haslett PA, Fitzgerald K, De León DD, Soundarapandian MM, et al. PLoS One. 2020 Jul 31;15(7):e0236892. doi: 10.1371/journal.pone.0236892. eCollection 2020.PLoS One. 2020.
18-F-L 3,4-Dihydroxyphenylalanine PET/Computed Tomography in the Management of Congenital Hyperinsulinism. States LJ, Saade-Lemus S, De Leon DD.States LJ, et al. PET Clin. 2020 Jul;15(3):349-359. doi: 10.1016/j.cpet.2020.03.004.PET Clin. 2020.
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism. Tung JY, Lai SHY, Au SLK, Yeung KS, Kan ASY, Loong F, DeLeón DD, Kalish JM, Ganguly A, Chung BHY, Chan KYK, Tung JY, et al. Int J Pediatr Endocrinol. 2020;2020:13. doi: 10.1186/s13633-020-00083-5. Epub 2020 Jul 10.Int J Pediatr Endocrinol. 2020.
Management and Appropriate Use of Diazoxide in Infants and Children with Hyperinsulinism. Brar PC, Heksch R, Cossen K, De Leon DD, Kamboj MK, Marks SD, Marshall BA, Miller R, Page L, Stanley T, Mitchell D, Thornton P, Brar PC, et al. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa543. doi: 10.1210/clinem/dgaa543.J Clin Endocrinol Metab. 2020.
Surgical treatment of congenital hyperinsulinism. Adzick NS. Semin Pediatr Surg. 2020 Jun;29(3):150924. doi: 10.1016/j.sempedsurg.2020.150924. Epub 2020 May 17. Read more here.
2019
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM.Sheppard SE, et al. Genet Med. 2019 Nov;21(11):2644-2649. doi: 10.1038/s41436-019-0551-9. Epub 2019 May 31.Genet Med. 2019.
Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. Adzick NS, De Leon DD, States LJ, Lord K, Bhatti TR, Becker SA, Stanley CA, Adzick NS, et al. J Pediatr Surg. 2019 Jan;54(1):27-32. doi: 10.1016/j.jpedsurg.2018.10.030. Epub 2018 Oct 5.J Pediatr Surg. 2019.
Vajravelu, M.E., Congdon, M., Mitteer, L., Koh, J., Givler, S., Shults, J., and De León, D.D.: Continuous intragastric dextrose: A therapeutic option for refractory hypoglycemia in congenital hyperinsulinism. Hormone Research in Paediatrics, 91(1): 62-68, 2019. doi: 10.1159/000491105.
Grand, K., Gonzalez-Gandolfi, C., Ackermann, A.M., Aljeaid, D., Bedoukian, E., Bird, L.M., De Leon, D.D., Diaz, J., Hopkin, R.J., Kadakia, S.P., Keena, B., Klein, K.O., Krantz, I., Leon, E., Lord, K., McDougall, C., Medne, L, Skraban, C.M., Stanley, C.A., Tarpinian, J., Zackai, E., Deardorff, M.A., and Kalish, J.M.: Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. American Journal of Medical Genetics Part A, February 2019. doi: 10.1002/ajmg.a.61062.
Hawkes, C.P., Lado, J.J., Givler, S., and De Leon, D.D.: The effect of continuous intravenous glucagon on glucose requirements in infants with congenital hyperinsulinism. Journal of Inherited Metabolic Disease Reports, 45: 45-50, 2019. doi: 10.1007/8904_2018_140. PMCID: PMC6336552
Adzick NS, De Leon DD, States LJ, Lord K, Bhatti TR, Becker SA, Stanley CA. Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. J Pediatr Surg. 2019 Jan;54(1):27-32. doi: 10.1016/j.jpedsurg.2018.10.030. Epub 2018 Oct 5.
2018
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2. Vajravelu ME, Chai J, Krock B, Baker S, Langdon D, Alter C, De León DD. Vajravelu ME, et al. J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047. doi: 10.1210/jc.2017-02157.J Clin Endocrinol Metab. 2018.
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA.Gibson CE, et al. Horm Res Paediatr. 2018;89(6):413-422. doi: 10.1159/000488347. Epub 2018 Jun 14.Horm Res Paediatr. 2018.
Herrera, A., Vajravelu, M.E., Givler, S., Mitteer, L., Avitabile, C.M., Lord, K., and De León, D.D.: Prevalence of adverse events in children with congenital hyperinsulinism treated with diazoxide. Journal of Clinical Endocrinology and Metabolism, 103(12): 4365-4372, December 2018. doi: 10.1210/jc.2018-01613. PMCID: PMC6207144
Vajravelu, M.E., Chai, J., Krock, B., Baker, S., Langdon, D., Alter, C., De León, D.D.: Congenital hyperinsulinism and hypopituitarism attributable to a mutation in FOXA2. Journal of Clinical Endocrinology and Metabolism, 103(3): 1042-1047. March 1, 2018. doi: 10.1210/jc.2017-02157. PMCID: PMC6276717
Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA. Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. Horm Res Paediatr. 2018 Jun 14; 1-10. [Epub ahead of print]
2017
Li, C., Ackermann, A.M., Patel, P., Chen, P., Boodhansingh, K.E., Givler, S., Bhatti, T.R., Liu, C., Schug, J., Doliba, N., Matschinsky, F.M., Nissim, I., Kaestner, K.H., Naji, A., Adzick, N.S., Stanley, C.A., and De León, D.D.: Functional and metabolic evaluation of islets from infants with hyperinsulinism due to loss of function mutations of ATP-dependent potassium channels. Diabetes 66(7): 1901-1913, July 2017. PMCID: PMC5482088
Banerjee I, De León D, Dunne MJ. Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy. Orphanet J Rare Dis. 2017 Apr 14;12(1):70.
Ferrara CT, Boodhansingh KE, Paradies E, Giuseppe F, Steinkrauss LJ, Topor LS, Quintos JB, Ganguly A, De León DD, Palmieri F, Stanley CA. Novel hypoglycemia phenotype in congenital hyperinsulinism due to dominant mutations of uncoupling protein 2. J Clin Endocrinol Metab. 2017 Mar 1;102(3):942-949.
Barrosse-Antle M, Su C, Chen P, Boodhansingh KE, Smith TJ, Stanley CA, De León DD, Li C. A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase. Pediatr Diabetes. 2017 Feb 6.
De León DD, Stanley CA. Congenital hypoglycemia disorders: new aspects of etiology, diagnosis, treatment and outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016. Pediatr Diabetes. 2017 Feb;18(1):3-9.
McMahon AW, Wharton GT, Thornton P, De León DD. Octreotide use and safety in infants with hyperinsulinism. Pharmacoepidemiol Drug Saf. 2017 Jan;26(1):26-31.
2016
Yang TB, McMahon P, De Léon DD, Treat JR. Use of propranolol for treating hemangiomas in infants with previously diagnosed hypoglycemic conditions. Pediatr Dermatol. 2016 Nov;33(6):e381-e384.
Martin GM, Rex EA, Devaraneni P, Denton JS, Boodhansingh KE, De León DD, Stanley CA, Shyng SL. Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. J Biol Chem. 2016 Oct 14;291(42):21971-21983. Epub 2016 Aug 29.
Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E. Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency. J Pediatr. 2016 Aug;175:130-136.e8.
Coughlin CC, Roy SM, Arkin LM, Adzick NS, Yan AC, De León DD, Rubin AI. Iatrogenic necrolytic migratory erythema in an infant with congenital hyperinsulinism. Pediatr Dermatol. 2016 Mar-Apr;33(2):e43-7.
Bhatti TR, Ganapathy K, Huppman AR, Conlin L, Boodhansingh KE, MacMullen C, Becker S, Ernst LM, Adzick NS, Ruchelli ED, Ganguly A, Stanley CA: Histologic and molecular profile of pediatric insulinomas: Evidence of a paternal parent-of-origin effect. J Clin Endocrinol Metab. 2016 Mar;101(3):914-22
Stanley CA. Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. J Clin Endocrinol Metab. 2016 Mar;101(3):815-26.
Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet. 2016 Jan;53(1):53-61. doi:10.1136/jmedgenet-2015-103394. PMCID: PMC4740975
Ferrara C, Patel P, Becker S, Stanley CA, Kelly A. Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. J Pediatr. 2016 Jan;168:212-9.
Hawkes CP, Grimberg A, Dzata VE, De León DD. Adding Glucagon-Stimulated GH Testing to the Diagnostic Fast Increases the Detection of GH-Sufficient Children. Horm Res Paediatr. 2016;85(4):265-72.
Hawkes CP, Adzick NS, Palladino AA, DeLeon DD: Late presentation of fulminant necrotizing enterocolitis in a child with hyperinsulinism on octreotide therapy. Horm Res Paediatr 86:131-136, 2016.
Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, DeLeon DD, Stanley CA, Deardorff MA. Persistent congenital hyperinsulinism in children with mosaic paternal 11p uniparental isodisomy and variable features of Beckwith-Wiedemann Syndrome. Journal of Medical Genetics 53:53-61, 2016.
2013
Laje P, States LJ, Zuang H, Becker SA, Palladino AA, Stanley CA, Adzick NS: The accuracy of PET/CT scan in the diagnosis of the focal form of congenital hyperinsulinism. J Pediatr Surg 48:388-393, 2013.
Lord K, De León DD. Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management. Int J Pediatr Endocrinol. 2013 Feb 6;2013(1):3.
18F-DOPA PET Scan and Congenital Hyperinsulinism Accuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism. Laje P. States LJ. Zhuang H. Becker SA. Palladino AA. Stanley CA. Adzick NS. Journal of Pediatric Surgery. 48(2):388-93, 2013 Feb. [Journal Article] UI: 23414871
2012
GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel. Calabria AC. Li C. Gallagher PR. Stanley CA. De Leon DD. Diabetes. 61(10):2585-91, 2012 Oct.
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. [Review] Senniappan S. Shanti B. James C. Hussain K. Journal of Inherited Metabolic Disease. 35(4):589-601, 2012 Jul.
2011
Palladino AA, Stanley CA. A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. Seminars in Pediatric Surgery. 20(1):32-7, 2011 Feb.
Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayannopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y, Bellanne-Chantelot C, de Lonlay P. Congenital hyperinsulinism: current trends in diagnosis and therapy. [Review] Orphanet Journal Of Rare Diseases. 6:63, 2011.
2009
Palladino AA, Bennett MJ, Stanley CA. Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. [Review] [66 refs][Reprint in Ann Biol Clin (Paris). 2009 May-Jun;67(3):245-54; Clinical Chemistry. 54(2):256-63, 2008 Feb.
2007
De Leon DD, Stanley CA. Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. [Review] [66 refs] Nature Clinical Practice Endocrinology & Metabolism. 3(1):57-68, 2007 Jan.
Hardy OT, Hernandez-Pampaloni M, Saffer JR, Suchi M, Ruchelli E, Zhuang H, et al. Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr. 2007 Feb;150(2):140-5.
Hardy OT, Hernandez-Pampaloni M, Saffer JR, Scheuermann JS, Ernst LM, Freifelder R, et al. Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol Metab. 2007 Dec;92(12):4706-11.
Peranteau WH, Bathaii SM, Pawel B, Hardy O, Alavi A, Stanley CA, Adzick NS. Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism. J Pediatr Surg. 2007 Jan;42(1):188-92.
Hardy O, Suchi M, Adzick NS, Alavi A, Stanley CA: Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. Journal of Pediatrics 150:140-145, 2007.
2006
Suchi M, MacMullen C, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA: Molecular and immunohistochemical analyses of focal form of congenital hyperinsulinism. Molecular Pathology 19:122-129, 2006.
Hussain K, Seppanen M, Nanto-Salonen K, Stanley CA, Adzick NS, Thornton P, Minn H: The diagnosis of ectopic focal hyperinsulinism of infancy with [18F] – DOPA Positron Emission Tomography. J Clin Endocrinol Metab 91:2839-42, 2006.
