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Monogenic Diabetes due to ABCC8/KCNJ11 Mutation: Case Study and Review of Literature [PDF]

open access: yes, 2020
Monogenic diabetes arises due to mutation in a single-gene and is recognized by their striking familial inheritance pattern. This form of diabetes is inherited in an autosomal dominant or recessive fashion, unlike polygenic Type 1 (autoimmune) or type 2 ...
Wei, C, Bano, G, Karunakaran, V
core   +3 more sources

Genetic testing for misclassified monogenic diabetes in Māori and Pacific peoples in Aōtearoa New Zealand with early-onset type 2 diabetes

open access: yesFrontiers in Endocrinology, 2023
AimsMonogenic diabetes accounts for 1-2% of diabetes cases yet is often misdiagnosed as type 2 diabetes. The aim of this study was to examine in Māori and Pacific adults clinically diagnosed with type 2 diabetes within 40 years of age, (a) the prevalence
Zanetta Toomata   +17 more
doaj   +1 more source

Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation

open access: yesFrontiers in Endocrinology, 2022
Monogenic diabetes is a rare form of diabetes, accounting for approximately 1% to 6% of pediatric diabetes patients. Some types of monogenic diabetes can be misdiagnosed as type 1 diabetes in children or adolescents because of similar clinical features ...
Marilea Lezzi   +12 more
doaj   +1 more source

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

open access: yesBMC Pediatrics, 2021
Background The prevalence of monogenic diabetes is estimated to be 1.1–6.3% of patients with diabetes mellitus (DM) in Europe. The overlapping clinical features of various forms of diabetes make differential diagnosis challenging.
Ja Hye Kim   +5 more
doaj   +1 more source

Monogenic forms of diabetes

open access: yes, 2023
Monogenic diabetes is a term used to describe a group of single-gene causes of diabetes. Traditional nomenclature has focused on the types of diabetes known as MODY, defined as maturity-onset diabetes of the young; infantile (or perinatal ...
Salguero, Maria V   +3 more
core   +3 more sources

The first presentation of Wolcott‐Rallison syndrome in a four‐month‐old infant with diabetic ketoacidosis (DKA) precipitating by COVID‐19: A case report

open access: yesClinical Case Reports, 2021
Monogenic diabetes mellitus (eg, Wolcott‐Rallison syndrome) is a rare condition. It associates with neonatal or early‐infancy insulin‐dependent diabetes.
Elham Maleki   +3 more
doaj   +1 more source

Genetics of monogenic diabetes: present clinical challenges [PDF]

open access: yes, 2018
Purpose of Review Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential.
Misra, S   +3 more
core   +1 more source

Monogenic diabetes – an unappreciated problem among physicians

open access: yesJournal of Medical Science, 2014
Monogenic diabetes results from one or more mutations in a single gene. It is a relatively rare genetic condition, therefore, it was frequently unappreciated among clinicians.
Elżbieta Niechciał   +4 more
doaj   +1 more source

Monogenic diabetes : From genetic insights to population-based precision in care. reflections from a diabetes care editors’ expert forum

open access: yes, 2020
Individualization of therapy based on a person’s specific type of diabetes is one key element of a “precision medicine” approach to diabetes care. However, applying such an approach remains difficult because of barriers such as disease heterogeneity ...
Pearson, Ewan R.   +21 more
core   +1 more source

Adiposity-Related Heterogeneity in Patterns of Type 2 Diabetes Susceptibility Observed in Genome-Wide Association Data [PDF]

open access: yes, 2009
OBJECTIVE-This study examined how differences in the BMI distribution of type 2 diabetic case subjects affected genome-wide patterns of type 2 diabetes, association mid considered the implications for the etiological heterogeneity of type 2 diabetes ...
Timpson, NJ   +52 more
core   +1 more source

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