The DOI matches its Crossref record; 102 of the 104 references it cites were found in a registry or an index.
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders
Open accessAbstract
CONTEXT: Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children. The risk of permanent brain injury in infants with HI continues to be as high as 25-50% due to delays in diagnosis and inadequate treatment. Congenital HI has been described since the birth of the JCEM under various terms, including "idiopathic hypoglycemia of infancy," "leucine-sensitive hypoglycemia," or "nesidioblastosis." EVIDENCE ACQUISITION: In the past 20 years, it has become apparent that HI is caused by genetic defects in the pathways that regulate pancreatic β-cell insulin secretion. EVIDENCE SYNTHESIS: There are now 11 genes associated with monogenic forms of HI (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1), as well as several syndromic genetic forms of HI (eg, Beckwith-Wiedemann, Kabuki, and Turner syndromes). HI is also the cause of hypoglycemia in transitional neonatal hypoglycemia and in persistent hypoglycemia in various groups of high-risk neonates (such as birth asphyxia, small for gestational age birthweight, infant of diabetic mother). Management of HI is one of the most difficult problems faced by pediatric endocrinologists and frequently requires difficult choices, such as near-total pancreatectomy and/or highly intensive care with continuous tube feedings. For 50 years, diazoxide, a KATP channel agonist, has been the primary drug for infants with HI; however, it is ineffective in most cases with mutations of ABCC8 or KCNJ11, which constitute the majority of infants with monogenic HI. CONCLUSIONS: Genetic mutation testing has become standard of care for infants with HI and has proven to be useful not only in projecting prognosis and family counseling, but also in diagnosing infants with surgically curable focal HI lesions. (18)F-fluoro-L-dihydroxyphenylalanine ((18)F-DOPA) PET scans have been found to be highly accurate for localizing such focal lesions preoperatively. New drugs under investigation provide hope for improving the outcomes of children with HI.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“While the pathophysiology of persistent hyperinsulinemic hypoglycemia in childhood and infancy, which is morphologically similar to NIPHS, is well understood from a genetic and functional point of view, mechanistic data on adult-onset NIPHS is scarce [49].”
From An Uncommon Cause of Recurrent Presyncope, Dizziness, and Tachycardia: A Case Report of Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS) (2023) · cites this paper as [49]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Loss-of-function mutations cause congenital hyperinsulinism because they result in permanent membrane depolarization and persistent insulin release (479, 644, 681).”
From Pancreatic β-Cell Electrical Activity and Insulin Secretion: Of Mice and Men (2018) · cites this paper as [644]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Immunoassay of endogenous plasma insulin in man
Yalow, R. S., & Berson, S. A. (1960) · Journal of Clinical Investigation · doi:10.1172/jci104130 · Cited by 3,041
Cloning of the β Cell High-Affinity Sulfonylurea Receptor: a Regulator of Insulin Secretion
Aguilar-Bryan, L., Nichols, C. G., Wechsler, S. W., Clement, J. P., Boyd, A. E., González, G., Herrera-Sosa, H., Nguy, K., Bryan, J., & Nelson, D. A. (1995) · Science · doi:10.1126/science.7716547 · Cited by 1,315
Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., & Bryan, J. (1995) · Science · doi:10.1126/science.7716548 · Cited by 806
Stanley, C. A., Lieu, Y. K., Hsu, B. Y. L., Burlina, A., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., & Poncz, M. (1998) · New England Journal of Medicine · doi:10.1056/nejm199805073381904 · Cited by 676
Self-citationThornton, P. S., Stanley, C. A., De Leon, D. D., Harris, D., Haymond, M. W., Hussain, K., Levitsky, L. L., Murad, M. H., Rozance, P. J., Simmons, R. A., et al. (2015) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2015.03.057 · Cited by 625 · cited 2×
“of infants with congenital HI and other persistent hypoglycemia disorders during the first 2 days of life (86).”
BackgroundSelf-citationFamilial Hyperinsulinism Caused by an Activating Glucokinase Mutation
Gläser, B., Kesavan, P., Heyman, M., Davis, E. A., Cuesta, A. L., Buchs, A. E., Stanley, C. A., THORNTON, P. S., Permutt, M. A., Matschinsky, F. M., et al. (1998) · New England Journal of Medicine · doi:10.1056/nejm199801223380404 · Cited by 563
Self-citationGenetic Analysis of Italian Patients with Congenital Hyperinsulinism of Infancy
Valin, P. S., Proverbio, M. C., Diceglie, C., Gessi, A., Candia, S. D., Mariani, B., Zamproni, I., Mangano, E., Asselta, R., Battaglia, C., et al. (2013) · Hormone Research in Paediatrics · doi:10.1159/000350827 · Cited by 552
IMMUNOASSAY OF ENDOGENOUS PLASMA INSULIN IN MAN
Yalow, R. S., & Berson, S. A. (1996) · Obesity Research · doi:10.1002/j.1550-8528.1996.tb00274.x · Cited by 459
Thomas, P. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.11.1809 · Cited by 443
Pearson, E. R., Boj, S. F., Steele, A. M., Barrett, T. G., Stals, K. L., Hamilton-Shield, J. P., Ellard, S., Ferrer, J. P., & Hattersley, A. T. (2007) · PLoS Medicine · doi:10.1371/journal.pmed.0040118 · Cited by 436
UCP2 transports C4 metabolites out of mitochondria, regulating glucose and glutamine oxidation
Vozza, A., Parisi, G., De Leonardis, F., Lasorsa, F. M., Castegna, A., Amorese, D., Marmo, R., Calcagnile, V. M., Palmieri, L., Ricquier, D., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1317400111 · Cited by 407
Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism
Snider, K. E., Becker, S. A., Boyajian, L., Shyng, S., MacMullen, C., Hughes, N., Ganapathy, K., Bhatti, T. R., Stanley, C. A., & Ganguly, A. A. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2169 · Cited by 335
Self-citationClayton, P. T., Eaton, S. D., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingré, H. E. M., Berger, R., & van den Berg, I. E. T. (2001) · Journal of Clinical Investigation · doi:10.1172/jci200111294 · Cited by 311
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J. A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1206605 · Cited by 284
Self-citationOtonkoski, T., Näntö‐Salonen, K., Seppänen, M., Veijola, R., Huopio, H., Hussain, K., Tapanainen, P. J., Eskola, O., Parkkola, R. K., Ekström, K., et al. (2006) · Diabetes · doi:10.2337/diabetes.55.01.06.db05-1128 · Cited by 268
Nestorowicz, A. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.11.1813 · Cited by 245
Re-evaluating “transitional neonatal hypoglycemia”: mechanism and implications for management
Stanley, C. A., Rozance, P. J., Thornton, P. S., De Leon, D. D., Harris, D., Haymond, M. W., Hussain, K., Levitsky, L. L., Murad, M. H., Simmons, R. A., et al. (2015) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2015.02.045 · Cited by 245
Self-citationFAMILIAL HYPOGLYCEMIA PRECIPITATED BY AMINO ACIDS
Cochrane, W. A., Payne, W. W., Simpkiss, M. J., & WOOLF, L. I. (1956) · Journal of Clinical Investigation · doi:10.1172/jci103292 · Cited by 245
Nestorowicz, A., Nobuya, I., Gonoi, T., Schoor, K. P., Wilson, B. A., Gläser, B., Landau, H., Stanley, C. A., THORNTON, P. S., Seino, S., et al. (1997) · Diabetes · doi:10.2337/diab.46.11.1743 · Cited by 237
Self-citationOtonkoski, T., Jiao, H., Kaminen‐Ahola, N., Tapia‐Páez, I., Ullah, M. S., Parton, L. E., Schuit, F. C., Quintens, R., Sipilä, I., Mayatepek, E., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/520960 · Cited by 235
Diagnosis and Localization of Focal Congenital Hyperinsulinism by 18F-Fluorodopa PET Scan
Hardy, O. T., Hernandez‐Pampaloni, M., Saffer, J. R., Suchi, M., Ruchelli, E. D., Zhuang, H., Ganguly, A. A., Freifelder, R. H., Adzick, N. S., Alavi, A. A., et al. (2007) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2006.08.028 · Cited by 231
Self-citationPinney, S. E., MacMullen, C., Becker, S. A., Lin, Y., Hanna, C. E., THORNTON, P. S., Ganguly, A. A., Shyng, S., & Stanley, C. A. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35414 · Cited by 204
Self-citationMolven, A., Matre, G. E., Durán, M., Wanders, R. J. A., Rishaug, U., Njølstad, P. R., Jellum, E., & Sövik, O. (2004) · Diabetes · doi:10.2337/diabetes.53.1.221 · Cited by 202
Autoimmune Forms of Hypoglycemia
Lupsa, B., Chong, A., Cochran, E., Soos, M., Semple, R., & Gorden, P. (2009) · Medicine · doi:10.1097/md.0b013e3181a5b42e · Cited by 192
Cell populations in the endocrine pancreas of human neonates and infants
Rahier, J., Wallon, J., & Henquin, J. (1981) · Diabetologia · doi:10.1007/bf00252762 · Cited by 186
An Activating Mutation of AKT2 and Human Hypoglycemia
Hussain, K., Challis, B., Rocha, N., Payne, F., Minic, M., Thompson, A., Daly, A., Scott, C. L., Harris, J. R., Smillie, B. J. L., et al. (2011) · Science · doi:10.1126/science.1210878 · Cited by 181
Li, C., Chen, P., Palladino, A., Narayan, S. B., Russell, L. K., Sayed, S. U., Xiong, G., Chen, J., Stokes, D., Butt, Y. M., et al. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.123638 · Cited by 179
Self-citationMitochondrial GTP regulates glucose-stimulated insulin secretion.
Kibbey, R., Pongratz, R. L., Romanelli, A. J., Wollheim, C., Cline, G., & Shulman, G. (2007) · Cell Metabolism · doi:10.1016/j.cmet.2007.02.008 · Cited by 178
Hoe, F. M., Thornton, P. S., Wanner, L. A., Steinkrauss, L., Simmons, R. A., & Stanley, C. A. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.10.002 · Cited by 174
Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes:HNF1AandHNF4A
Stanescu, D. E., Hughes, N., Kaplan, B., Stanley, C. A., & León, D. D. D. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1356 · Cited by 173
Self-citationMcQuarrie, I. G. (1954) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1954.02050090387001 · Cited by 169
Adzick, N. S., THORNTON, P. S., Stanley, C. A., Kaye, R. D., & Ruchelli, E. D. (2004) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2003.11.019 · Cited by 168
Self-citationShyng, S., Ferrigni, T., Shepard, J. B., Nestorowicz, A., Gläser, B., Permutt, M. A., & Nichols, C. G. (1998) · Diabetes · doi:10.2337/diabetes.47.7.1145 · Cited by 165
Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism
Thorton, P. S., & Alter, C. A. (1993) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80969-2 · Cited by 159
Otonkoski, T., Kaminen‐Ahola, N., Ustinov, J., Lapatto, R., Meißner, T., Mayatepek, E., Kere, J., & Sipilä, I. (2003) · Diabetes · doi:10.2337/diabetes.52.1.199 · Cited by 150
Tornovsky-Babeay, S., Dadon, D., Ziv, O., Tzipilevich, E., Kadosh, T., Schyr, R. B., Hija, A., Stolovich-Rain, M., Furth‐Lavi, J., Granot, Z., et al. (2013) · Cell Metabolism · doi:10.1016/j.cmet.2013.11.007 · Cited by 150
Self-citationFinegold, D. N., Stanley, C. A., & Baker, L. (1980) · The Journal of Pediatrics · doi:10.1016/s0022-3476(80)80817-1 · Cited by 150
Self-citationBeta cell nesidioblastosis in idiopathic hypoglycemia of infancy
Yakovac, W. C., Baker, L., & Hummeler, K. (1971) · The Journal of Pediatrics · doi:10.1016/s0022-3476(71)80105-1 · Cited by 143
MacMullen, C., Fang, J., Hsu, B. Y. L., Kelly, A. T., de Lonlay, P., Saudubray, J., Ganguly, A. A., Smith, T. J., Stanley, C. A., & The Hyperinsulinism/Hyperammonemia Contributing Investigators (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.4.7414 · Cited by 143
Self-citationSirolimus Therapy in Infants with Severe Hyperinsulinemic Hypoglycemia
Senniappan, S., Alexandrescu, S., Tatevian, N., Shah, P., Arya, V. B., Flanagan, S. E., Ellard, S., Rampling, D., Ashworth, M. T., Brown, R. E., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1310967 · Cited by 141
HYPERINSULINISM IN ASPHYXIATED AND SMALL-FOR-DATES INFANTS WITH HYPOGLYCAEMIA
Collins, J. E., & Leonard, J. V. (1984) · The Lancet · doi:10.1016/s0140-6736(84)92685-0 · Cited by 141
Hardy, O. T., Hernandez‐Pampaloni, M., Saffer, J. R., Scheuermann, J. S., Ernst, L. M., Freifelder, R. H., Zhuang, H., MacMullen, C., Becker, S. A., Adzick, N. S., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1637 · Cited by 140
Self-citationLord, K., Radcliffe, J., Gallagher, P. R., Adzick, N. S., Stanley, C. A., & León, D. D. D. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2539 · Cited by 138
Self-citationLaje, P., Stanley, C. A., Palladino, A., Becker, S. A., & Adzick, N. S. (2012) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2011.10.032 · Cited by 135
Self-citationHøjlund, K., Hansen, T., Lajer, M., Henriksen, J. E., Levin, K., Lindholm, J., Pedersen, O., & Beck-Nielsen, H. (2004) · Diabetes · doi:10.2337/diabetes.53.6.1592 · Cited by 130
Persistent Neonatal Hyperinsulinism
Mathew, P. M., Young, J. M., Abu‐Osba, Y. K., Bd, M., Hammoudi, S., Hamdan, J. A., & Sa'di, A. R. M. (1988) · Clinical Pediatrics · doi:10.1177/000992288802700307 · Cited by 130
Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion
González‐Barroso, M. M., Giurgea, I., Bouillaud, F., Anedda, A., Bellanné‐Chantelot, C., Hubert, L., de Keyzer, Y., de Lonlay, P., & Ricquier, D. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003850 · Cited by 129
Hyperinsulinism in Infancy: Diagnosis by Demonstration of Abnormal Response to Fasting Hypoglycemia
Stanley, C. A., & Baker, L. (1976) · PEDIATRICS · doi:10.1542/peds.57.5.702 · Cited by 127
Self-citationHyperinsulinism in Infants and Children: Diagnosis and Therapy*
Stanley, C. A., & Baker, L. (1976) · Advances in Pediatrics · doi:10.1016/s0065-3101(22)00724-1 · Cited by 126
Self-citationMonocarboxylate Transporter 1 Deficiency and Ketone Utilization
van Hasselt, P. M., Ferdinandusse, S., Monroe, G. R., Ruiter, J. P. N., Turkenburg, M., Geerlings, M. J., Duran, K. J., Harakaľová, M., van der Zwaag, B., Monavari, A. A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1407778 · Cited by 125
Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus
Bruining, G. J. (1990) · Current Opinion in Pediatrics · doi:10.1097/00008480-199008000-00024 · Cited by 122
Sayed, S. U., Langdon, D. R., Odili, S., Chen, P., Buettger, C. W., Schiffman, A. B., Suchi, M., Taub, R. A., Grimsby, J. S., Matschinsky, F. M., et al. (2009) · Diabetes · doi:10.2337/db08-1792 · Cited by 118
Self-citationBiomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children
Ferrara, C., Patel, P. J., Becker, S. A., Stanley, C. A., & Kelly, A. T. (2015) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2015.09.045 · Cited by 115
Self-citationLi, C., Liu, C., Nissim, I., Chen, J., Chen, P., Doliba, N. M., Zhang, T., Nissim, I. B., Daikhin, Y., Stokes, D., et al. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.385682 · Cited by 110
Self-citationHyperinsulinaemic hypoglycaemia in small for dates babies
Collins, J. E., Leonard, J. V., Teale, D., Marks, V, Williams, D. M., Kennedy, C. R., & Hall, M. A. (1990) · Archives of Disease in Childhood · doi:10.1136/adc.65.10.1118 · Cited by 110
Yan, F.-F., Lin, Y., MacMullen, C., Ganguly, A. A., Stanley, C. A., & Shyng, S. (2007) · Diabetes · doi:10.2337/db07-0150 · Cited by 110
Self-citationHypoglycemia in infancy and childhood. Part II
Pagliara, A. S., Karl, I. E., Haymond, M. W., & KIPNIS, D. M. (1973) · The Journal of Pediatrics · doi:10.1016/s0022-3476(73)80581-5 · Cited by 109
Calabria, A. C., Li, C., Gallagher, P. R., Stanley, C. A., & León, D. D. D. (2012) · Diabetes · doi:10.2337/db12-0166 · Cited by 108
Self-citationDrug therapy in leucine-sensitive hypoglycemia
DRASH, A. L., & Wolff, F. W. (1964) · Metabolism · doi:10.1016/0026-0495(64)90133-7 · Cited by 107
Laje, P., Halaby, L. P., Adzick, N. S., & Stanley, C. A. (2009) · Pediatric Diabetes · doi:10.1111/j.1399-5448.2009.00547.x · Cited by 106
Self-citationEffects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism
Steinkrauss, L., Lipman, T. H., Hendell, C. D., Gerdes, M., Thornton, P. S., & Stanley, C. A. (2005) · Journal of Pediatric Nursing · doi:10.1016/j.pedn.2004.12.009 · Cited by 101
Self-citationAcute Insulin Responses to Leucine in Children with the Hyperinsulinism/Hyperammonemia Syndrome
Kelly, A. T., Ng, D. D., Ferry, R. J., Grimberg, A., Koo-McCoy, S., THORNTON, P. S., & Stanley, C. A. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.8.7755 · Cited by 98
Self-citationKalish, J. M., Boodhansingh, K. E., Bhatti, T. R., Ganguly, A. A., Conlin, L. K., Becker, S. A., Givler, S., Mighion, L. C., Palladino, A., Adzick, N. S., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103394 · Cited by 97
Self-citationRaizen, D. M., Brooks‐Kayal, A. R., Steinkrauss, L. J., Tennekoon, G. I., Stanley, C. A., & Kelly, A. T. (2005) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.10.040 · Cited by 94
Self-citationFang, J., Hsu, B. Y. L., MacMullen, C., Poncz, M., Smith, T. J., & Stanley, C. A. (2002) · Biochemical Journal · doi:10.1042/0264-6021:3630081 · Cited by 93
Self-citationGeneviève, D., Amiel, J., Viot, G., Merrer, M. F. L., Sanlaville, D., Urtizberea, A., Gérard, M., Münnich, A., Cormier‐Daire, V., & Lyonnet, S. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30144 · Cited by 92
Successful treatment of congenital hyperinsulinism with long-acting release octreotide
Sang, K. L. Q., Arnoux, J., Mamoune, A., Saint‐Martin, C., Bellanné‐Chantelot, C., Valayannopoulos, V., Brassier, A., Kayirangwa, H., Barbier, V., Broissand, C., et al. (2011) · European Journal of Endocrinology · doi:10.1530/eje-11-0874 · Cited by 90
Large Islets, Beta-Cell Proliferation, and a Glucokinase Mutation
Kassem, S., Bhandari, S., Rodríguez-Bada, P., Motaghedi, R., Heyman, M., García-Gimeno, M. A., Cobo‐Vuilleumier, N., Sanz, P., Maclaren, N. K., Rahier, J., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmc0909845 · Cited by 89
Congenital hyperinsulinism and the surgeon: Lessons learned over 35 years
Lovvorn, H. N., Nance, M. L., Ferry, R. J., Stolte, L., Baker, L., O’Neill, J. A., Schnaufer, L., Stanley, C. A., & Adzick, N. S. (1999) · Journal of Pediatric Surgery · doi:10.1016/s0022-3468(99)90374-3 · Cited by 89
Self-citationWhy expression of some genes is disallowed in β-cells
Quintens, R., Hendrickx, N., Lemaire, K., & Schuit, F. C. (2008) · Biochemical Society Transactions · doi:10.1042/bst0360300 · Cited by 87
Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q
Pinney, S. E., Ganapathy, K., Bradfield, J. P., Stokes, D., Sasson, A., Mackiewicz, K., Boodhansingh, K. E., Hughes, N., Becker, S. A., Givler, S., et al. (2013) · Hormone Research in Paediatrics · doi:10.1159/000351943 · Cited by 83
Self-citationGläser, B., Ryan, F., Donath, M. Y., Landau, H., Stanley, C. A., Baker, L. W., Barton, D. E., & THORNTON, P. S. (1999) · Diabetes · doi:10.2337/diabetes.48.8.1652 · Cited by 81
Self-citationAccuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism
Laje, P., States, L. J., Zhuang, H., Becker, S. A., Palladino, A., Stanley, C. A., & Adzick, N. S. (2013) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2012.11.025 · Cited by 79
Self-citationRedmon, J., & Nuttall, F. (1999) · Endocrinology and metabolism clinics of North America (Print) · doi:10.1016/s0889-8529(05)70090-6 · Cited by 77
Insulin autoimmune syndrome is the third leading cause of spontaneous hypoglycemic attacks in Japan
Takayama-Hasumi, S., Eguchi, Y., Sato, A., Morita, C., & Hirata, Y. (1990) · Diabetes Research and Clinical Practice · doi:10.1016/0168-8227(90)90063-y · Cited by 74
Henquin, J., Sempoux, C. L., Marchandise, J., Godecharles, S., Guiot, Y., Nenquin, M., & Rahier, J. (2012) · Diabetes · doi:10.2337/db12-1414 · Cited by 71
MacMullen, C., Zhou, Q., Snider, K. E., Tewson, P. H., Becker, S. A., Aziz, A. R., Ganguly, A. A., Shyng, S., & Stanley, C. A. (2011) · Diabetes · doi:10.2337/db10-1631 · Cited by 70
Self-citationTreberg, J. R., Clow, K. A., Greene, K. A., Brosnan, M. E., & Brosnan, J. T. (2010) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00028.2010 · Cited by 69
MacMullen, C. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.4.1782 · Cited by 69
Li, C., Matter, A. M., Kelly, A. T., Petty, T. J., Najafi, H., MacMullen, C., Daikhin, Y., Nissim, I. B., Lazarow, A., Kwagh, J., et al. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m600994200 · Cited by 68
Self-citationTargeting the cell cycle inhibitor p57Kip2 promotes adult human β cell replication
Avrahami, D., Li, C., Yu, M., Jiao, Y., Zhang, J., Naji, A., Ziaie, S., Gläser, B., & Kaestner, K. H. (2014) · Journal of Clinical Investigation · doi:10.1172/jci69519 · Cited by 66
Hypoglycemia in infancy and childhood
Cornblath, M., Pildes, R. S., & Schwartz, R. (1973) · The Journal of Pediatrics · doi:10.1016/s0022-3476(73)80246-x · Cited by 65
León, D. D. D., Li, C., Delson, M. I., Matschinsky, F. M., Stanley, C. A., & Stoffers, D. A. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m804372200 · Cited by 64
Self-citationHyperinsulinism in Developmental Syndromes
Kapoor, R. R., James, C. T., & Hussain, K. (2009) · Endocrine development · doi:10.1159/000207480 · Cited by 61
Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism
Huang, T., Kelly, A. T., Becker, S. A., Cohen, M. S., & Stanley, C. A. (2013) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/archdischild-2012-302546 · Cited by 59
Self-citationSuchi, M., THORNTON, P. S., Adzick, N. S., MacMullen, C., Ganguly, A. A., Stanley, C. A., & Ruchelli, E. D. (2004) · The American Journal of Surgical Pathology · doi:10.1097/01.pas.0000138000.61897.32 · Cited by 54
Self-citationExercise induced hypoglycaemic hyperinsulinism
Meißner, T. (2001) · Archives of Disease in Childhood · doi:10.1136/adc.84.3.254 · Cited by 53
Nellist, M. D., Schot, R., Hoogeveen‐Westerveld, M., Neuteboom, R. F., van der Louw, E. J. T. M., Lequin, M. H., Heus, K. B., Sibbles, B. J., de Coo, I. F. M., Brooks, A. S., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.11.018 · Cited by 50
Activating AKT2 Mutation: Hypoinsulinemic Hypoketotic Hypoglycemia
Arya, V. B., Flanagan, S. E., Schober, E., Rami-Merhar, B. M., Ellard, S., & Hussain, K. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-3228 · Cited by 37
Li, C., Nissim, I., Chen, P., Buettger, C. W., Najafi, H., Daikhin, Y., Nissim, I. B., Collins, H. W., Yudkoff, M., Stanley, C. A., et al. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m709235200 · Cited by 37
Self-citationTransitional neonatal hypoglycemia
Jobe, A. H. (2015) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2015.04.024 · Cited by 34
High Prevalence of Severe Circulatory Complications with Diazoxide in Premature Infants
Yoshida, K., Kawai, M., Marumo, C., Kanazawa, H., Matsukura, T., Kusuda, S., Yorifuji, T., & Heike, T. (2014) · Neonatology · doi:10.1159/000356772 · Cited by 33
Gläser, B., Blech, I., Krakinovsky, Y., Ekstein, J., Gillis, D., Mazor‐Aronovitch, K., Landau, H., & Abeliovich, D. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31821fea33 · Cited by 33
Mosaic Turner Syndrome and Hyperinsulinaemic Hypoglycaemia
Alkhayyat, H., Christesen, H. T., Steer, J., Stewart, H. S., Brusgaard, K., & Hussain, K. (2006) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2006.19.12.1451 · Cited by 29
Nesidioblastosis No Longer! It's All about Genetics
Palladino, A., & Stanley, C. A. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0164 · Cited by 29
Self-citationMonogenic Hyperinsulinemic Hypoglycemia Disorders
(2012) · Frontiers in diabetes · doi:10.1159/isbn.978-3-8055-9944-3 · Cited by 27
Bhatti, T. R., Ganapathy, K., Huppmann, A. R., Conlin, L. K., Boodhansingh, K. E., MacMullen, C., Becker, S. A., Ernst, L. M., Adzick, N. S., Ruchelli, E. D., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2914 · Cited by 25
Self-citationA novel atypical presentation of insulin autoimmune syndrome (Hirata’s disease) in a child
Alves, C., Fernandes, J. C., León, D. D. D., Snider, K. E., & Stanley, C. A. (2013) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2013-0215 · Cited by 23
Self-citationKibbey, R. G., Choi, C. S., Lee, H., Cabrera, O., Pongratz, R. L., Zhao, X., Birkenfeld, A. L., Li, C., Berggren, P., Stanley, C. A., et al. (2014) · Diabetes · doi:10.2337/db14-0783 · Cited by 20
Self-citationHyperinsulinism Due to Activating Mutations of Glucokinase
Sayed, S. U., Matschinsky, F. M., & Stanley, C. A. (2012) · Frontiers in diabetes · doi:10.1159/000334521 · Cited by 10
Self-citationHyperinsulinaemic hypoglycaemia in small for dates babies.
Mehta, A. (1991) · Archives of Disease in Childhood · doi:10.1136/adc.66.6.749-c · Cited by 10
Exercise-Induced Hyperinsulinism: A Failure of Monocarboxylate Transporter 1 Expression Silencing
Otonkoski, T., & Meißner, T. (2012) · Frontiers in diabetes · doi:10.1159/000334529 · Cited by 4
Research works printed but not linked: 4
- Hartmann AF, Jaudon JC. Hypoglycemia. J Pediatr. 1937;11:1-36.
- Yakovac WC, Baker L, Hummeler K.  Cell nesidioblastosis in id- iopathic hypoglycemia of infancy. J Pediatr. 1971;79:226 -231.
- Suchi M, Thornton PS, Adzick NS, et al. Congenital hyperinsulin- ism: intraoperative biopsy interpretation can direct the extent of pancreatectomy. Am J Surg Pathol. 2004;28:1326 -1335.
- Meissner T, Otonkoski T, Feneberg R, et al. Exercise induced hy- poglycaemic hyperinsulinism. Arch Dis Child. 2001;84:254 -257.
Cited by
Sorted by citations
Pancreatic β-Cell Electrical Activity and Insulin Secretion: Of Mice and Men
Rorsman, P., & Ashcroft, F. M. (2018) · Physiological Reviews · doi:10.1152/physrev.00008.2017 · Cited by 793
Mechanisms controlling pancreatic islet cell function in insulin secretion
Campbell, J. E., & Newgard, C. B. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-00317-7 · Cited by 682
Therapies and outcomes of congenital hyperinsulinism‐induced hypoglycaemia
Banerjee, I., Salomon‐Estebanez, M., Shah, P., Nicholson, J., Cosgrove, K. E., & Dunne, M. J. (2018) · Diabetic Medicine · doi:10.1111/dme.13823 · Cited by 142
ATP‐Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles
Tinker, A., Aziz, Q. H., Li, Y., & Specterman, M. J. (2018) · Comprehensive physiology · doi:10.1002/cphy.c170048 · Cited by 145
“In severe diffuse disease, partial pancreatectomy is ultimately necessary and may in later life lead to diabetes mellitus (502).”
New insights into KATP channel gene mutations and neonatal diabetes mellitus
Pipatpolkai, T., Usher, S., Stansfeld, P. J., & Ashcroft, F. M. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-0351-y · Cited by 122
Metadata
- Authors
- Stanley, C. A.
- Affiliations
- Children's Hospital of Philadelphia (US)
- Corresponding author
- Stanley, Charles A.
- ORCID
- Stanley, Charles A.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2016-03
- Volume
- 101
- Issue
- 3
- Pages
- 815-826
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC4803157
- OpenAlex
- W2277559429
- Cited by
- 239
- References
- 104
- Citations by year
- 2026: 14 · 2025: 13 · 2024: 13 · 2023: 13 · 2022: 24 · 2021: 25 · 2020: 36 · 2019: 24 · 2018: 39 · 2017: 25 · 2016: 13
- FWCI
- 6.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Children's Hospital of Philadelphia
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (R37DK056268)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital hyperinsulinism, pancreatic beta-cell insulin secretion, ABCC8, KCNJ11, genetic diagnosis, diazoxide, near-total pancreatectomy, 18F-DOPA PET, focal pancreatic lesions, Beckwith-Wiedemann syndrome, Kabuki syndrome, Turner syndrome, neonatal hypoglycemia
- MeSH terms
- Insulin Secretion, Humans, Infant, Newborn, Insulin, Congenital Hyperinsulinism, KATP Channels
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
