Genetics and pathophysiology of neonatal diabetes mellitus
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Summary
Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM), as well as syndromic cases of NDM, as wellAs genetic testing for at‐risk family members, which allows for the implementation of appropriate therapy, leading to improved outcomes and potential societal cost savings.
- Type
- review
- Published
- 2011-03-02
- Cited by
- 90
- References
- 93
- Access
- Open access
- OpenAlex
- https://openalex.org/W1490005573
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:13873220
Keywords
Medicine, Pathophysiology, Diabetes mellitus, Bioinformatics, Internal medicine
References
- A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.
- Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11
- Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
- Medicinal chemistry approaches for glucokinase activation to treat type 2 diabetes.
- The Cost-Effectiveness of Personalized Genetic Medicine
- Update in neonatal diabetes
- Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV)
- Neonatal Diabetes Mellitus: A Model for Personalized Medicine
- Neonatal and Late-Onset Diabetes Mellitus Caused by Failure of Pancreatic Development: Report of 4 More Cases and a Review of the Literature
- Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay
- Misfolded Proinsulin Affects Bystander Proinsulin in Neonatal Diabetes*
- Peroxisome proliferator-activated receptor gamma is a Zac target gene mediating Zac antiproliferation.
- Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
- The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
- Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.
- Glibenclamide controls ketosis-prone diabetes in a 38-year-old woman with Kir6.2 mutation
- Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation.
- Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
- ISPAD Clinical Practice Consensus Guidelines 2006–2007 The diagnosis and management of monogenic diabetes in children
- Pancreatic Duodenal Homeobox (PDX-1) in Health and Disease
Cited by
- Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
- Update on diabetes classification.
- Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus
- A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins
- KATP Channels in the Cardiovascular System.
- Hypoglycemic and High Dosage Effects of Bidens pilosa in Type-1 Diabetes Mellitus
- Practical Aspects of Monogenic Diabetes: A Clinical Point of View.
- Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
- Functional Consequences of Cantu Syndrome Associated Mutations in the ATP Sensitive Potassium Channel
- Zebrafish pancreas as a model for development and disease.
- Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.
- Diabetic pdx1-mutant zebrafish show conserved responses to nutrient overload and anti-glycemic treatment
- Primary Care Endocrinology in the Adult Woman.
- Identification of insulin gene variants in neonatal diabetes
- Can Diabetes Heal?- From Observations to Perspectives.
- Maturity onset diabetes of the young: Seek and you will find.
- An infant with diabetes mellitus: Is it always T1DM?
- Low molecular weight fucoidan ameliorates the inflammation and glomerular filtration function of diabetic nephropathy
- Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol
- Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation
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