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• W2145565170 abstract "Monogenic diabetes which is caused by a change in a single gene, accounts for 1–2% of diabetes, (20,000–40,000 cases) in the UK but is often misdiagnosed as Type 1 or Type 2 [ [1] Shepherd M. Recognising maturity onset diabetes of the young. Journal of Diabetes Nursing. 2001; 5–6: 168-172 Google Scholar ]. The diagnosis may be missed as confirmatory tests for Type 1 and Type 2 (e.g. pancreatic auto-antibodies and c-peptide measurement) are often not performed and the significance of a dominant family history is not appreciated [ [2] Hattersley A.T. Molecular genetics goes to the diabetes clinic. Clinical Medicine. 2005; 5–5: 476-481 Crossref Scopus (45) Google Scholar ]. Recognition of patients with monogenic diabetes is a clinical skill with molecular genetic testing confirming the diagnosis [ [2] Hattersley A.T. Molecular genetics goes to the diabetes clinic. Clinical Medicine. 2005; 5–5: 476-481 Crossref Scopus (45) Google Scholar ]. Advances in molecular genetics mean it is possible to define the underlying gene in many clinically recognised subgroups of monogenic diabetes [ [2] Hattersley A.T. Molecular genetics goes to the diabetes clinic. Clinical Medicine. 2005; 5–5: 476-481 Crossref Scopus (45) Google Scholar ]. Making a definitive diagnosis is important as it can determine optimal treatment. In many cases confirming a molecular genetic diagnosis has enabled patients to replace insulin injections with sulphonylurea tablets with improvements in glycaemic control and quality of life [ [3] Shepherd M. Hattersley A.T. ‘I don’t feel like a diabetic anymore’: the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. Clinical Medicine. 2004; 4: 144-147 Crossref PubMed Scopus (56) Google Scholar ]. It may also explain associated features and enables better prediction of disease progression, screening of family members and genetic counselling [ [4] Hattersley A.T. Bruining J. Shield J. Njolstad P. Donaghue K. ISPAD clinical practice consensus guidelines 2006–2007. The diagnosis and management of monogenic diabetes in children. Pediatric Diabetes. 2006; 7: 352-360 Crossref PubMed Scopus (115) Google Scholar ]." @default.
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• W2145565170 date "2008-06-01" @default.
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• W2145565170 title "Our evolving understanding of monogenic diabetes: Possibilities of improving glycaemic control following transfer from insulin to sulphonylureas" @default.
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• W2145565170 doi "https://doi.org/10.1016/j.pcd.2008.02.002" @default.
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