Treatment options for MODY patients: a systematic review of literature
Open accessAbstract
Maturity-onset diabetes of the young (MODY) is an unusual form of diabetes with specific features that distinguish it from type 1 and type 2 diabetes. There are 14 known subtypes of MODY, and mutations in three genes (HNF1A, HNF4A, GCK) account for about 95% of all MODY cases. Diagnosis usually occurs before the age of 25 years, although less frequent forms may occur more often-but not necessarily-later in life. The molecular diagnosis may tailor the choice of the most appropriate treatment, with the aim to optimize blood glucose control, reduce the risk of hypoglycemic events and long-term complications, and enable proper genetic counseling. Treatment is usually unnecessary for patients with mutations in the GCK gene, while oral hypoglycemic agents (generally sulphonylureas) are recommended for patients with mutations in the HNF4A and HNF1A genes. More recent data show that other glucose-lowering agents can be effective in the latter patients, and additional and alternative therapies have been proposed. Proper management guidelines during pregnancy have been developed for carriers of GCK gene mutations, but such guidelines are still a subject of debate in other cases, although some recommendations are available. The other subtypes of MODY are even more rare, and very little data are available in the literature. In this review we summarize the most pertinent findings and recommendations on the treatment of patients with the different subtypes of MODY. Our aim is to provide the reader with an easy-to-read update that can be used to drive the clinician's therapeutical approach to these patients after the molecular diagnosis.
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Individuals with TF-related MODY are more frequently on insulin therapy.
“these individuals are more frequently on insulin therapy”
From Obstructive Sleep Apnea, Resting Heart Rate, and Glycemic Variability in Adults With Maturity-Onset Diabetes of the Young (2026) · cites this paper as [17]
The Introduction’s Table 1 lists insulin as a treatment option for several transcription-factor-related MODY subtypes, and the HNF1B–MODY management section reports that 79% of one cohort used insulin at follow-up. The review does not establish that people with transcription-factor-related MODY are more frequently on insulin than a specified comparison group. (LLM, conf=0.82)
Experimental — accuracy not yet measuredIn GCK-MODY, glucose homeostasis is maintained at a higher set point resulting in mild, asymptomatic fasting hyperglycemia.
“in GCK-MODY, glucose homeostasis is maintained at a higher set point resulting in mild, asymptomatic fasting hyperglycemia”
From Obstructive Sleep Apnea, Resting Heart Rate, and Glycemic Variability in Adults With Maturity-Onset Diabetes of the Young (2026) · cites this paper as [17]
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2. Classification and Diagnosis of Diabetes: <i>Standards of Medical Care in Diabetes—2020</i>
American Diabetes Association (2020) · Diabetes Care · doi:10.2337/dc20-s002 · Cited by 3,187 · see citing works
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
Fajans, S. S., Bell, G. I., & Polonsky, K. S. (2001) · New England Journal of Medicine · doi:10.1056/nejmra002168 · Cited by 1,123 · see citing works
Ahlgren, U., Jönsson, J., Jönsson, L., Simu, K., & Edlund, H. (1998) · Genes & Development · doi:10.1101/gad.12.12.1763 · Cited by 918 · see citing works
Genetic cause of hyperglycaemia and response to treatment in diabetes
Pearson, E. R., Starkey, B. J., Powell, R. J., Gribble, F. M., Clark, P. M., & Hattersley, A. T. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14571-0 · Cited by 607 · see citing works
Mutations in the glucokinase gene of the fetus result in reduced birth weight
Hattersley, A. T., Beards, F., Ballantyne, E., Appleton, M., Harvey, R., & Ellard, S. (1998) · Nature Genetics · doi:10.1038/953 · Cited by 592 · see citing works
Edfalk, S., Steneberg, P., & Edlund, H. (2008) · Diabetes · doi:10.2337/db08-0307 · Cited by 587 · see citing works
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
Murphy, R., Ellard, S., & Hattersley, A. T. (2008) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0778 · Cited by 502 · see citing works
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 430 · see citing works
Insulin Mutation Screening in 1,044 Patients With Diabetes
Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., et al. (2008) · Diabetes · doi:10.2337/db07-1405 · Cited by 397 · see citing works
Steele, A. M., Shields, B. M., Wensley, K. J., Colclough, K., Ellard, S., & Hattersley, A. T. (2014) · JAMA · doi:10.1001/jama.2013.283980 · Cited by 379 · see citing works
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
Ræder, H., Johansson, S., Holm, P. I., Haldorsen, I. S., Mas, E., Sbarra, V., Nermoen, I., Eide, S. Å., Grevle, L., Bjørkhaug, L., et al. (2005) · Nature Genetics · doi:10.1038/ng1708 · Cited by 377 · see citing works
Shields, B. M., McDonald, T. J., Ellard, S., Campbell, M. J., Hyde, C., & Hattersley, A. T. (2012) · Diabetologia · doi:10.1007/s00125-011-2418-8 · Cited by 338 · see citing works
Hattersley, A. T., Greeley, S. A. W., Polak, M., Rubio-Cabezas, O., Njølstad, P. R., Mlynarski, W., Castano, L., Carlsson, A., Raile, K., Chi, D. V., et al. (2018) · Pediatric Diabetes · doi:10.1111/pedi.12772 · Cited by 319 · see citing works
Precision diabetes: learning from monogenic diabetes
Hattersley, A. T., & Patel, K. A. (2017) · Diabetologia · doi:10.1007/s00125-017-4226-2 · Cited by 307 · see citing works
NEVE, B. P., Fernández-Zapico, M. E., Ashkenazi-Katalan, V., Christian Dina, C., Hamid, Y. H., Joly, E. C., Vaillant, E., Benmezroua, Y., Durand, E., Bakaher, N., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0409177102 · Cited by 294 · see citing works
Chakera, A. J., Steele, A. M., Gloyn, A. L., Shepherd, M. H., Shields, B. M., Ellard, S., & Hattersley, A. T. (2015) · Diabetes Care · doi:10.2337/dc14-2769 · Cited by 292 · see citing works
The genetic abnormality in the beta cell determines the response to an oral glucose load
Stride, A., Vaxillaire, M., Tuomi, T., Barbetti, F., Njølstad, P. R., Hansen, T. F., Costa, A., Conget, I., Pedersen, O. B., Søvik, O., et al. (2002) · Diabetologia · doi:10.1007/s00125-001-0770-9 · Cited by 275 · see citing works
Bellanné‐Chantelot, C., Clauin, S., Chauveau, D., Collin, P., DAUMONT, M., Douillard, C., Dubois‐Laforgue, D., Dusselier, L., Gautier, J., Jadoul, M. Y., et al. (2005) · Diabetes · doi:10.2337/diabetes.54.11.3126 · Cited by 274 · see citing works
Rafiq, M., Flanagan, S. E., Patch, A., Shields, B. M., Ellard, S., Hattersley, A. T., & The Neonatal Diabetes International Collaborative Group (2008) · Diabetes Care · doi:10.2337/dc07-1785 · Cited by 265 · see citing works
Velho, G., Blanché, H., Vaxillaire, M., Bellanné‐Chantelot, C., Pardini, V. C., Timsit, J., Passa, P., Deschamps, I., Robert, J., Weber, I. T., et al. (1997) · Diabetologia · doi:10.1007/s001250050666 · Cited by 264 · see citing works
Renal Phenotypes Related to Hepatocyte Nuclear Factor-1β (TCF2) Mutations in a Pediatric Cohort
Ulinski, T., Lescure, S., Beaufils, S., Guigonis, V., Decramer, S., Morin, D., Clauin, S., Deschênes, G., Bouissou, F., BENSMAN, A., et al. (2005) · Journal of the American Society of Nephrology · doi:10.1681/asn.2005101040 · Cited by 261 · see citing works
Pearson, E. R., Liddell, W. G., Shepherd, M., Corrall, R. J., & Hattersley, A. T. (2000) · Diabetic Medicine · doi:10.1046/j.1464-5491.2000.00305.x · Cited by 259 · see citing works
Shepherd, M., Shields, B. M., Ellard, S., Rubio‐Cabezas, O., & Hattersley, A. T. (2009) · Diabetic Medicine · doi:10.1111/j.1464-5491.2009.02690.x · Cited by 242 · see citing works
Pearson, E. R., Průhová, Š., Tack, C. J., Johansen, A., Castleden, H., Lumb, P. J., Wierzbicki, A. S., CLARK, P. M. S., Lebl, J., Pedersen, O. B., et al. (2005) · Diabetologia · doi:10.1007/s00125-005-1738-y · Cited by 231 · see citing works
Ellard, S., Beards, F., Allen, L. I. S., Shepherd, M. H., Ballantyne, E., Harvey, R., & Hattersley, A. T. (2000) · Diabetologia · doi:10.1007/s001250050038 · Cited by 209 · see citing works
Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes
Molven, A., Ringdal, M., Nordbø, A. M., Ræder, H., Støy, J., Lipkind, G. M., Steiner, D. F., Philipson, L. H., Bergmann, I., Aarskog, D., et al. (2008) · Diabetes · doi:10.2337/db07-1467 · Cited by 207 · see citing works
Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
Bonnefond, A., Philippe, J., Durand, E., Dechaume, A., Huyvaert, M., Montagne, L., Marre, M., Balkau, B., Fajardy, I., Vambergue, A., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0037423 · Cited by 203 · see citing works
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1
Bingham, C. (2004) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfh348 · Cited by 194 · see citing works
Beta-cell mitochondria in the regulation of insulin secretion: a new culprit in Type II diabetes
Wollheim, C. B. (2000) · Diabetologia · doi:10.1007/s001250050044 · Cited by 191 · see citing works
Mutations at the BLK locus linked to maturity onset diabetes of the young and β-cell dysfunction
Borowiec, M., Liew, C. W., Thompson, R., Boonyasrisawat, W., Hu, J., Mlynarski, W. M., Khattabi, I. E., Kim, S., Marselli, L., Rich, S. S., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906474106 · Cited by 191 · see citing works
Chronic diabetic complications in patients with MODY3 diabetes
Isomaa, B., Henricsson, M., Lehto, M. J., Forsblom, C. M., Karanko, S., Sarelin, L., Häggblom, M. M., & Groop, L. (1998) · Diabetologia · doi:10.1007/s001250050931 · Cited by 190 · see citing works
Bowman, P., Sulen, Å., Barbetti, F., Beltrand, J., Svalastoga, P., Ethel Codner, D., Tessmann, E. H., Júlíusson, P. B., Skrivarhaug, T., Pearson, E. R., et al. (2018) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(18)30106-2 · Cited by 177 · see citing works
Self-citationDubois‐Laforgue, D., Cornu, E., Saint‐Martin, C., Coste, J., Bellanné‐Chantelot, C., Timsit, J., & for the Monogenic Diabetes Study Group of the Société Francophone du Diabète (2017) · Diabetes Care · doi:10.2337/dc16-2462 · Cited by 175 · see citing works
PAX4Mutations in Thais with Maturity Onset Diabetes of the Young
Plengvidhya, N., Kooptiwut, S., Songtawee, N., Doi, A., Furuta, H., Nishi, M., Nanjo, K., Tantibhedhyangkul, W., Boonyasrisawat, W., Yenchitsomanus, P., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1927 · Cited by 172 · see citing works
Different genes, different diabetes: lessons from maturity-onset diabetes of the young
Stride, A., & Hattersley, A. T. (2002) · Annals of Medicine · doi:10.1080/ann.34.3.207.217 · Cited by 162 · see citing works
Chakera, A. J., Spyer, G., Vincent, N., Ellard, S., Hattersley, A. T., & Dunne, F. (2014) · Diabetes Care · doi:10.2337/dc13-2248 · Cited by 153 · see citing works
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus
Prudente, S., Jungtrakoon, P., Marucci, A., Ludovico, O., Buranasupkajorn, P., Mazza, T., Hastings, T., Milano, T., Morini, E., Mercuri, L., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.05.011 · Cited by 145 · see citing works
Naylor, R. N., John, P. M., Winn, A. N., Carmody, D., Greeley, S. A. W., Philipson, L. H., Bell, G. I., & Huang, E. S. (2013) · Diabetes Care · doi:10.2337/dc13-0410 · Cited by 139 · see citing works
Østoft, S. H., Bagger, J. I., Hansen, T. F., Pedersen, O. B., Faber, J. O., Holst, J. J., Knop, F. K., & Vilsbøll, T. (2014) · Diabetes Care · doi:10.2337/dc13-3007 · Cited by 138 · see citing works
Pearson, E. R., Velho, G., Clark, P., Stride, A., Shepherd, M. H., Frayling, T. M., Bulman, M. P., Ellard, S., Froguel, P., & Hattersley, A. T. (2001) · Diabetes · doi:10.2337/diabetes.50.2007.s101 · Cited by 134 · see citing works
Contrasting Diabetes Phenotypes Associated With Hepatocyte Nuclear Factor-1α and -1β Mutations
Pearson, E. R., Badman, M. K., Lockwood, C. R., CLARK, P. M. S., Ellard, S., Bingham, C., & Hattersley, A. T. (2004) · Diabetes Care · doi:10.2337/diacare.27.5.1102 · Cited by 132 · see citing works
Steele, A. M., Wensley, K. J., Ellard, S., Murphy, R., Shepherd, M. H., Colclough, K., Hattersley, A. T., & Shields, B. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0065326 · Cited by 131 · see citing works
Spyer, G., MacLeod, K. M., Shepherd, M. H., Ellard, S., & Hattersley, A. T. (2008) · Diabetic Medicine · doi:10.1111/j.1464-5491.2008.02622.x · Cited by 129 · see citing works
Shepherd, M. H., Pearson, E. R., Houghton, J., Salt, G., Ellard, S., & Hattersley, A. T. (2003) · Diabetes Care · doi:10.2337/diacare.26.11.3191-a · Cited by 129 · see citing works
Stride, A., Ellard, S., Clark, P. M. S., Shakespeare, L., Salzmann, M. B., Shepherd, M. H., & Hattersley, A. T. (2005) · Diabetes Care · doi:10.2337/diacare.28.7.1751 · Cited by 125 · see citing works
Hattersley, A. T., & Pearson, E. R. (2006) · Endocrinology · doi:10.1210/en.2006-0152 · Cited by 118 · see citing works
Influence of maternal and fetal glucokinase mutations in gestational diabetes
Spyer, G., Hattersley, A. T., Sykes, J. E., Sturley, R., & MacLeod, K. M. (2001) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2001.113127 · Cited by 116 · see citing works
Delvecchio, M., Mozzillo, E., Salzano, G., Iafusco, D., Frontino, G., Patera, P. I., Rabbone, I., Cherubini, V., Grasso, V., Tinto, N., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2490 · Cited by 109 · see citing works
Self-citationThe HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Hamilton, A., Bingham, C., McDonald, T. J., Cook, P. R., Caswell, R. C., Weedon, M. N., Oram, R. A., Shields, B. M., Shepherd, M. H., Inward, C. D., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-102066 · Cited by 108 · see citing works
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
Kapoor, R. R., Flanagan, S. E., James, C. T., McKiernan, J., Thomas, A., Harmer, S. C., Hamilton-Shield, J. P., Tinker, A., Ellard, S., & Hussain, K. (2011) · Diabetologia · doi:10.1007/s00125-011-2207-4 · Cited by 98 · see citing works
Tuomi, T., Honkanen, E., Isomaa, B., Sarelin, L., & Groop, L. (2006) · Diabetes Care · doi:10.2337/diacare.29.02.06.dc05-1314 · Cited by 98 · see citing works
Bacon, S., Kyithar, M. P., Rizvi, S. R., Donnelly, E., McCarthy, A., Burke, M., Colclough, K., Ellard, S., & Byrne, M. M. (2015) · Diabetic Medicine · doi:10.1111/dme.12992 · Cited by 94 · see citing works
Hansen, T. F., Eiberg, H., Rouard, M., et al. (1997) · Diabetes · doi:10.2337/diab.46.4.726 · Cited by 91 · see citing works
Novel insights into genetics and clinics of the HNF1A-MODY
Valkovicova, T., Skopkova, M., Stanik, J., & Gasperikova, D. (2019) · Endocrine Regulations · doi:10.2478/enr-2019-0013 · Cited by 84 · see citing works
Tripathy, D., Carlsson, X. C. L., Lehto, M. J., Isomaa, B., Tuomi, T., & Groop, L. (2000) · Diabetologia · doi:10.1007/s001250051558 · Cited by 77 · see citing works
Østoft, S. H., Bagger, J. I., Hansen, T. F., Pedersen, O. B., Holst, J. J., Knop, F. K., & Vilsbøll, T. (2014) · Diabetes · doi:10.2337/db13-1878 · Cited by 52 · see citing works
Meglitinide Analogues in Adolescent Patients With HNF1A-MODY (MODY 3)
Becker, M., Galler, A., & Raile, K. (2014) · PEDIATRICS · doi:10.1542/peds.2012-2537 · Cited by 51 · see citing works
Rudland, V. L., Hinchcliffe, M. J., Pinner, J. R., Cole, S. J., Mercorella, B., Molyneaux, L. M., Constantino, M., Yue, D. K., Ross, G. P., & Wong, J. (2015) · Diabetes Care · doi:10.2337/dc15-1001 · Cited by 51 · see citing works
Horikawa, Y., Enya, M., Mabe, H., et al. (2017) · Pediatric Diabetes · doi:10.1111/pedi.12553 · Cited by 49 · see citing works
Treatment of young patients with HNF1A mutations (HNF1A–MODY)
Raile, K., Schober, E., Konrad, K., Thon, A., Grulich‐Henn, J., Meissner, T., Woelfle, J., Scheuing, N., Holl, R. W., & the DPV Initiative the German BMBF Competence Network Diabetes Mellitus (2014) · Diabetic Medicine · doi:10.1111/dme.12662 · Cited by 48 · see citing works
Risk Factors for Subclinical Atherosclerosis in Diabetic and Obese Children
Faienza, M. F., Acquafredda, A., Tesse, R., Luce, V., Ventura, A., Maggialetti, N., Monteduro, M., Giordano, P., & Cavallo, L. (2013) · International Journal of Medical Sciences · doi:10.7150/ijms.5181 · Cited by 46 · see citing works
Self-citationGenetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY)
Horikawa, Y., & Enya, M. (2019) · Current Diabetes Reports · doi:10.1007/s11892-019-1130-9 · Cited by 46 · see citing works
Pinelli, M., Acquaviva, F., Barbetti, F., Caredda, E., Cocozza, S., Delvecchio, M., Mozzillo, E., Pirozzi, D., Prisco, F., Rabbone, I., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0079933 · Cited by 41 · see citing works
Self-citationKyithar, M. P., Bacon, S., Pannu, K., et al. (2011) · Diabetes & Metabolism · doi:10.1016/j.diabet.2011.04.002 · Cited by 40 · see citing works
Shepherd, M. H., Brook, A., Chakera, A. J., & Hattersley, A. T. (2017) · Diabetic Medicine · doi:10.1111/dme.13388 · Cited by 40 · see citing works
Bonnefond, A., Yengo, L., Philippe, J., et al. (2012) · Diabetologia · doi:10.1007/s00125-012-2794-8 · Cited by 39 · see citing works
Hohendorff, J., Szopa, M., SKUPIEN, J. K., Kapusta, M., Zapała, B., Płatek, T., Mrozińska, S., Parpan, T., Głodzik, W., Ludwig-Galezowska, A. H., et al. (2017) · Endocrine · doi:10.1007/s12020-017-1341-2 · Cited by 38 · see citing works
Sujjitjoon, J., Kooptiwut, S., Chongjaroen, N., et al. (2015) · Acta Diabetologica · doi:10.1007/s00592-015-0760-x · Cited by 37 · see citing works
Mruthyunjaya, M. D., Chapla, A., Shyamasunder, A. H., Varghese, D., Varshney, M., Paul, J., Inbakumari, M., Christina, F., Varghese, R. T., Kuruvilla, K. A., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0168656 · Cited by 32 · see citing works
Decreased Glibenclamide Uptake in Hepatocytes of Hepatocyte Nuclear Factor-1α-Deficient Mice
Boileau, P., Wolfrum, C., Shih, D. Q., Tie-nan, Y., Wolkoff, A. W., & Stoffel, M. (2002) · Diabetes · doi:10.2337/diabetes.51.2007.s343 · Cited by 31 · see citing works
Docena, M. K., Faiman, C., Stanley, C. M., et al. (2013) · Endocrine Practice · doi:10.4158/ep13254.or · Cited by 29 · see citing works
Delvecchio, M., Ludovico, O., Menzaghi, C., et al. (2014) · Diabetes Care · doi:10.2337/dc14-1788 · Cited by 28 · see citing works
Self-citationBrunerová, L., Rahelić, D., Ceriello, A., et al. (2017) · Diabetes/Metabolism Research and Reviews · doi:10.1002/dmrr.2940 · Cited by 26 · see citing works
KLF11 variant in a family clinically diagnosed with early childhood‐onset type 1B diabetes
Ushijima, K., Narumi, S., Ogata, T., et al. (2019) · Pediatric Diabetes · doi:10.1111/pedi.12868 · Cited by 26 · see citing works
First Case Report of Maturity-Onset Diabetes of the Young Type 4 Pedigree in a Chinese Family
Deng, M., Xiao, X., Zhou, L., & Wang, T. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00406 · Cited by 25 · see citing works
Öçal, G., Flanagan, S. E., Hacıhamdioğlu, B., Berberoğlu, M., Şıklar, Z., Ellard, S., Erdeve, Ş. S., Okulu, E., Akın, İ. M., Atasay, B., et al. (2011) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2011.347 · Cited by 24 · see citing works
Reilly, F. H., Sánchez-Lechuga, B., Clinton, S. K., Crowe, G.-G., Burke, M., Ng, N., Colclough, K., & Byrne, M. M. (2019) · Diabetic Medicine · doi:10.1111/dme.14145 · Cited by 24 · see citing works
Christensen, A. S., Hædersdal, S., Storgaard, H., Rose, K., Hansen, N. L., Holst, J. J., Hansen, T. F., Knop, F. K., & Vilsbøll, T. (2020) · Diabetes · doi:10.2337/db20-0074 · Cited by 24 · see citing works
El-Samahy, M. H., Matter, R. M., Youssef, O. I., Telbany, M. A. S. E. D. E., & Kamal, N. A. (2013) · Journal of Diabetes & Metabolic Disorders · doi:10.1186/2251-6581-12-50 · Cited by 21 · see citing works
Fantasia, K. L., & Steenkamp, D. (2019) · Journal of the Endocrine Society · doi:10.1210/js.2019-00278 · Cited by 21 · see citing works
Mangrum, C., Rush, E. T., & Shivaswamy, V. (2015) · Clinical Medicine Insights Endocrinology and Diabetes · doi:10.4137/cmed.s31926 · Cited by 20 · see citing works
Urbanová, J., Anděl, M., Potočková, J., et al. (2015) · Current Pharmaceutical Design · doi:10.2174/1381612821666151008124036 · Cited by 20 · see citing works
Carrillo, E., Lomas, A., Pinés, P. J., & Lamas, C. (2017) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-17-0052 · Cited by 17 · see citing works
The Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED), Delvecchio, M., Salzano, G., Bonura, C., Cauvin, V., Cherubini, V., d’Annunzio, G., Franzese, A., Giglio, S., Grasso, V., et al. (2018) · Acta Diabetologica · doi:10.1007/s00592-018-1179-y · Cited by 17 · see citing works
Self-citationThe first case of NEUROD1‐MODY reported in Latin America
Abreu, G. D. M., Tarantino, R. M., Cabello, P. H., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.989 · Cited by 16 · see citing works
Demol, S., Lebenthal, Y., Bar-Meisels, M., et al. (2014) · Hormone Research in Paediatrics · doi:10.1159/000356925 · Cited by 10 · see citing works
Khelifa, S. B., Dendana, A., Barboura, I., Khochtali, I., Chahed, H., Ferchichi, S., & Miled, A. (2016) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2016.01.015 · Cited by 8 · see citing works
Christensen, A. S., Storgaard, H., Hædersdal, S., Hansen, T. F., Knop, F. K., & Vilsbøll, T. (2018) · BMJ Open · doi:10.1136/bmjopen-2018-022517 · Cited by 7 · see citing works
Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation
Delvecchio, M., Paola, R. D., Mangiacotti, D., Sacco, M. C., Menzaghi, C., & Trischitta, V. (2014) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/1824-7288-40-58 · Cited by 3 · see citing works
Self-citation981-P: GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in HNF1A Diabetes
Christensen, A. S., Hædersdal, S., Storgaard, H., et al. (2019) · Diabetes · doi:10.2337/db19-981-p · Cited by 1 · see citing works
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Approach to the patient with mody-monogenic diabetes
Broome, D. T., Pantalone, K. M., Kashyap, S. R., & Philipson, L. H. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa710 · Cited by 159 · see citing works
Arosemena, M., Chopra, K., Salguero, M. V., Reyes, D., Naylor, R. N., Wroblewski, K., Tasali, E., & Philipson, L. H. (2026) · Diabetes · doi:10.2337/db24-0787 · Cited by 2 · see citing works
- Authors
- Delvecchio, M., Pastore, C., & Giordano, P.
- Affiliations
- Ospedale Pediatrico Giovanni XXIII (IT)
- University of Bari Aldo Moro (IT)
- Corresponding author
- Delvecchio, Maurizio
- Venue
- Diabetes Therapy
- Published
- 2020-06-24
- Volume
- 11
- Issue
- 8
- Pages
- 1667-1685
- ISSN
- 1869-6953 (ISSN-L)
- 1869-6961
- PMC
- PMC7376807
- OpenAlex
- W3037020706
- Cited by
- 172
- References
- 90
- Citations by year
- 2026: 17 · 2025: 31 · 2024: 39 · 2023: 29 · 2022: 29 · 2021: 22 · 2020: 5
- FWCI
- 4.81
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Diabetes Therapy (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca - Università degli Studi dell Aquila (submittedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes Treatment and Management
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- maturity-onset diabetes of the young, HNF1A, HNF4α, sulfonylureas, oral antidiabetic drugs, glucose-lowering agents, hypoglycemia, genetic counseling, pregnancy management, molecular diagnosis, diabetes subtypes
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 ›
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