Article

Potential Pathogenetic Role of a Novel Abcc8 Missense Variant on Both Transient Neonatal Diabetes Mellitus and Fetal Growth Restriction: A Case Report

2024-04-22

Abstract excerpt

<title>Abstract</title> <p>We report a novel missense ABCC8 variant associated with a clinical phenotype compatible with transient neonatal diabetes mellitus in a fetal growth restricted preterm infant. The variant would appear to be associated with a mild and transient clinical course, since the hyperglycemia resolved shortly after the first month of life, needed transient insulin therapy, and did not recur late...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ea38d3fd-f115-502e-9f1e-739343c713bb
DOI: 10.21203/rs.3.rs-4254058/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 12 closest

Potential Pathogenetic Role of a Novel Abcc8 Missense Variant on Both Transient Neonatal Diabetes Mellitus and Fetal Growth Restriction: A Case ReportDOI 10.21203/rs.3.rs-4254058/v1Read

Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family.Semantic proximity Read

[Neonatal diabetes: a disease linked to multiple mechanisms].Semantic proximity Read

Association of variants of ABCB11 with transient neonatal cholestasis.Semantic proximity Read

Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.Semantic proximity Read

Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.Semantic proximity Read

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.Semantic proximity Read

Neonatal diabetes mellitus: a disease linked to multiple mechanisms.Semantic proximity Read

The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene.Semantic proximity Read

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.Semantic proximity Read

First Report of Diabetes Phenotype due to a Loss‐of‐Function ABCC8 Mutation Previously Known to Cause Congenital HyperinsulinismSemantic proximity Read

Neonatal Diabetes Mellitus: Novel Mutations.Semantic proximity Read

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.Semantic proximity Read