ArticlePediatric diabetes2016
Characteristics of maturity onset diabetes of the young in a large diabetes center.
Article in Pediatric diabetes, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- American Association of Clinical Endocrinology Clinical Practice Guideline: Developing a Diabetes Mellitus Comprehensive Care Plan-2022 Update.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2022Guideline
- Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018 · on this mapTrial
- Clinical screening for GCK-MODY in 2,989 patients from the Brazilian Monogenic Diabetes Study Group (BRASMOD) and the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG).Archives of endocrinology and metabolism · 2024Article
- Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- A case series of maturity-onset diabetes of the young highlighting atypical presentations and the implications of genetic diagnosis.Archives of endocrinology and metabolism · 2024Article
- When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?Archives of endocrinology and metabolism · 2022Article
- Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation.Frontiers in endocrinology · 2022Article
- Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.Pediatric diabetes · 2021Article
- A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations inLife (Basel, Switzerland) · 2021Article
- Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.Journal of diabetes investigation · 2021Article
- Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.BMJ open diabetes research & care · 2020Article
- Article
- Genetics and Pathophysiology of Maturity-onset Diabetes of the Young (MODY): A Review of Current Trends.Oman medical journal · 2020Review
- New clinical screening strategy to distinguishBMJ open diabetes research & care · 2020Article
- Incidence and associates of diabetic ketoacidosis in a community-based cohort: the Fremantle Diabetes Study Phase II.BMJ open diabetes research & care · 2020Observational
- Update on clinical screening of maturity-onset diabetes of the young (MODY).Diabetology & metabolic syndrome · 2020Review
- Article
- How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.Current diabetes reports · 2019Review
- Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?PloS one · 2019Article
- Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options.Current diabetes reports · 2018Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes caused by a mutation in a single gene, often not requiring insulin. The aim of this study was to estimate the frequency and clinical characteristics of MODY at the Barbara Davis Center. A total of 97 subjects with diabetes onset before age 25, a random C-peptide ≥0.1 ng/mL, and negative for all diabetes autoantibodies (GADA, IA-2, ZnT8, and IAA) were enrolled, after excluding 21 subjects with secondary diabetes or refusal to participate. Genetic testing for MODY 1-5 was performed through Athena Diagnostics, and all variants of unknown significance were further analyzed at Exeter, UK. A total of 22 subjects [20 (21%) when excluding two siblings] were found to have a mutation in hepatocyte nuclear factor 4A (n = 4), glucokinase (n = 8), or hepatocyte nuclear factor 1A (n = 10). Of these 22 subjects, 13 had mutations known to be pathogenic and 9 (41%) had novel mutations, predicted to be pathogenic. Only 1 of the 22 subjects had been given the appropriate MODY diagnosis prior to testing. Compared with MODY-negative subjects, the MODY-positive subjects had lower hemoglobin A1c level and no diabetic ketoacidosis at onset; however, these characteristics are not specific for MODY. In summary, this study found a high frequency of MODY mutations with the majority of subjects clinically misdiagnosed. Clinicians should have a high index of suspicion for MODY in youth with antibody-negative diabetes.
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