2nd Department of Internal Medicine 3rd Faculty of Medicine Center for Research of Diabetes Metabolism and Nutrition University Hospital Královské Vinohrady Prague Czechia

Department of Internal Medicine 2nd Faculty of Medicine Charles University Prague Czechia

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Fajans SS, Bell GI. MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care (2011) 34:1878–84. 10.2337/dc11-0035 PubMed DOI PMC

Omim A. Online Mendelian Inheritance in Man. Maturity-Onset Diabetes of the Young; MODY. (2016). Available online at: http://mirror.omim.org/entry/606391 (Accessed March 19, 2018).

Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia (2010) 53:2504–8. 10.1007/s00125-010-1799-4 PubMed DOI

Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nat Clin Pract Endocrinol Metab. (2008) 4:200–13. 10.1038/ncpendmet0778 PubMed DOI

Pearson ER, Liddell WG, Shepherd M, Hattersley AT. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diab Med. (2000) 17:543–5. 10.1046/j.1464-5491.2000.00305.x PubMed DOI

Brunerova L, Rahelic D, Ceriello A, Broz J. Use of oral antidiabetic drugs in the treatment of maturity-onset diabetes of the young (MODY): a minireview. Diabetes Metab Res Rev. (2018) 34:e2940 10.1002/dmrr.2940 PubMed DOI

Pihoker C, Gilliam LK, Ellard S, Dabelea D, Davis C, Dolan LM, et al. . Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab. (2013) 98:4055–62. 10.1210/jc.2013-1279 PubMed DOI PMC

Ellard S, Bellanne-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia (2008) 51:546–53. 10.1007/s00125-008-0942-y PubMed DOI PMC

Steele AM, Wensley KJ, Ellard S, Murphy R, Shepherd M, Colclough K, et al. . Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS ONE (2013) 8:e65326. 10.1371/journal.pone.0065326 PubMed DOI PMC

Carroll RW, Murphy R. Monogenic diabetes: a diagnostic algorithm for clinicians. Genes (2013) 4:522–35. 10.3390/genes4040522 PubMed DOI PMC

Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT. The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia (2012) 55:1265–72. 10.1007/s00125-011-2418-8 PubMed DOI PMC

Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njølstad PR, Hansen T, et al. . The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia (2002) 45:427–35. 10.1007/s00125-001-0770-9 PubMed DOI

Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Hattersley AT. Intrauterine hyperglycaemia is associated with an earlier diagnosis of diabetes in HNF-1α gene mutation carriers. Diabetes Care (2002) 25:2287–91. 10.2337/diacare.25.12.2287 PubMed DOI

Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, et al. . Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. Diabetes Care (2005) 28:1751–6. 10.2337/diacare.28.7.1751 PubMed DOI

Owen KR, Shepherd M, Stride A, Ellard S, Hattersley AT. Heterogeneity in young adult onset aetiology alters clinical characteristics. Diabet Med. (2002) 19:758–61. 10.1046/j.1464-5491.2002.00766.x PubMed DOI

McDonald TJ, McEneny J, Pearson ER, Thanabalasingham G, Szopa M, Shields BM. Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes. Clin Chim Acta (2012) 413:927–32. 10.1016/j.cca.2012.02.005 PubMed DOI

Leighton E, Sainsbury CA, Jones GC. A practical review of C-peptide testing in diabetes. Diabetes Ther. (2017) 8:475–87. 10.1007/s13300-017-0265-4 PubMed DOI PMC

McDonald TJ, Ellard S. Maturity onset diabetes of the young: identification and diagnosis. Ann Clin Biochem. (2013) 50(Pt 5):403–15. 10.1177/0004563213483458 PubMed DOI

Bingley PJ. Clinical applications of diabetes antibody testing. J Clin Endocrinol Metab. (2010) 95:25–33. 10.1210/jc.2009-1365 PubMed DOI

Urbanová J, Rypáčková B, Procházková Z, Kučera P, Cerná M, Anděl M, et al. Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. Diabetic Med. (2014) 31:466–71. 10.1111/dme.12314 PubMed DOI

Thanabalasingham G, Shah N, Vaxillaire M, Hansen T, Tuomi T, Gašperíková D, et al. . A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia (2011) 54:2801–10. 10.1007/s00125-011-2261-y PubMed DOI

Bellanne-Chantelot C, Coste J, Ciangura C, Fonfrède M, Saint-Martin C, Bouché C, et al. High-sensitivity C-reactive protein does not improve the differential diagnosis of HNF1A-MODY and familial young-onset type 2 diabetes: a grey zone analysis. Diabetes Metab. (2015) 42:33–7. 10.1016/j.diabet.2015.02.001 PubMed DOI

Mughal SA, Thanabalasingham G, Owen RK. Biomarkers currently used for the diagnosis of maturity-onset diabetes of the young. Diabetes Manage. (2013) 3:71–80. 10.2217/dmt.12.82 DOI

Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, et al. . Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia (2005) 48:878–85. 10.1007/s00125-005-1738-y PubMed DOI

Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, et al. . Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. (2007) 4:e118. 10.1371/journal.pmed.0040118 PubMed DOI PMC

Thanabalasingham G, Pal A, Selwood MP, Dudley C, Fisher K, Bingley PJ, et al. . Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care (2012) 35:1206–12. 10.2337/dc11-1243 PubMed DOI PMC

Amed S, Dean HJ, Panagiotopoulos C, Sellers EA, Hadjiyannakis S, Laubscher TA, et al. . Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children. Diabetes Care (2010) 33:786–91. 10.2337/dc09-1013 PubMed DOI PMC

Stanik J, Dusatkova P, Cinek O, Valentinova L, Huckova M, Skopkova M, et al. . De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed. Diabetologia (2014) 57:480–4. 10.1007/s00125-013-3119-2 PubMed DOI

Bellanné-Chantelot C, Carette C, Riveline JP, Valéro R, Gautier JF, Larger E, et al. . The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes (2008) 57:503–8. 10.2337/db07-0859 PubMed DOI

Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, et al. . Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes (2010) 59:266–71. 10.2337/db09-0555 PubMed DOI PMC

Gloyn AL, van de Bunt M, Stratton IM, Lonie L, Tucker L, Ellard S, et al. . Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia. Diabetologia (2009) 52:172–4. 10.1007/s00125-008-1188-4 PubMed DOI

Kleinberger JW, Pollin TI. Undiagnosed MODY: time for action. Curr Diab Rep. (2015) 15:110. 10.1007/s11892-015-0681-7 PubMed DOI PMC

Kawakita R, Hosokawa Y, Fujimaru R, Tamagawa N, Urakami T, Takasawa K, et al. . Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients. Diabet Med. (2014) 31:1357–62. 10.1111/dme.12487 PubMed DOI

McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, et al. . Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med. (2011) 28:1028–33. 10.1111/j.1464-5491.2011.03287.x PubMed DOI

Schober E, Rami B, Grabert M, Thon A, Kapellen T, Reinehr T, et al. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with Type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicenter database. Diabetic Med. (2009) 26:466–73. 10.1111/j.1464-5491.2009.02720.x PubMed DOI

Pruhová Š, Dušátková P, Neumann D, Hollay E, Cinek O, Lebl J, et al. . Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY? Diabetes Care (2013) 36:2573–4. 10.2337/dc13-0058 PubMed DOI PMC

Kyithar MP, Bacon S, Pannu KK, Rizvi SR, Colclough K, Ellard S, et al. Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications. Diabetes Metab. (2011) 37:512–9. 10.1016/j.diabet.2011.04.002 PubMed DOI

Kim SH. Maturity-onset diabetes of the young: what do clinicians need to know? Diabetes Metab J. (2015) 39:468–77. 10.4093/dmj.2015.39.6.468 PubMed DOI PMC

Shields BM, Shepherd M, Hudson M, McDonald TJ, Colclough K, Peters J, et al. Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients. Diabetes Care (2017) 40:1017–25. 10.2337/dc17-0224 PubMed DOI PMC

Prevalence of Diabetes Mellitus among Roma Populations-A Systematic Review