ArticleAnnals of translational medicine2022
A case report of Maturity-onset diabetes of the young 12: large fragment deletion in
Article in Annals of translational medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2026Pooled it
- The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.Current diabetes reports · 2024Review
- Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.Journal of personalized medicine · 2022Review
- Sex-specific transcriptional rewiring in the brain of Alzheimer's disease patients.Frontiers in aging neuroscience · 2022Article
- ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent.AACE clinical case reportsArticle
- Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.Indian journal of endocrinology and metabolismArticle
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Maturity-onset diabetes of the young (MODY) is one type of monogenic diabetes that is often misdiagnosed. The case refers to a case of maturity-onset diabetes of the young 12 (MODY12) who was misdiagnosed with type 1 diabetes (T1DM), and this was the first case of MODY12 induced by a large deletion of the ATP-binding cassette transporter C8 gene ( Case Description: A 22 years old, male patient had been misdiagnosed with T1DM for 4 years and had experienced poor glucose control with multiple daily insulin injections. Their glycated hemoglobin (HbA1c) was 12.9% at the time of admission and they had been experiencing frequent hypoglycemia. Next-generation sequencing found that the chr11p15.1 region had large fragment heterozygous deletion of exon 17 of the Conclusions: It is easy for underweight MODY patients to be misdiagnosed with T1DM. For T1DM patients with poor insulin treatment effects, repeated hypoglycemia, and persistent insulin secretion level,
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.