Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report

Journal of clinical research in pediatric endocrinology - 11 Mar 2024

Kokumai Takahide, Suzuki Shigeru, Nishikawa Noriko, Yamamura Hinako, Mukai Tokuo, Tanahashi Yusuke, Takahashi Satoru

Abstract excerpt

Wolfram syndrome (WS) is a monogenic diabetes caused by variants of the WFS1 gene. It is characterized by diabetes mellitus (DM) and optic atrophy. Individuals with WS initially present with autoantibody-negative type 1 DM (type 1B DM; T1BDM). The diagnosis is often delayed or misdiagnosed, even after visual impairment becomes apparent. We report a case of WS diagnosed by ophthalmologic screening before the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus, Type 1

Share to Early Diagnosis

Share to Membrane Proteins

Share to Mutation

Share to Optic Atrophy

Share to Wolfram Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 35983751
DOI: 10.4274/jcrpe.galenos.2022.2022-4-11
PMCID: PMC10938529

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case ReportPMID 35983751Read ↗

Wolfram syndrome type 1: a case series.Semantic proximity Read ↗

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential TherapiesSemantic proximity Read ↗

Wolfram Syndrome: a rare optic neuropathy in youth with type 1 diabetes.Semantic proximity Read ↗

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.Semantic proximity Read ↗

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.Semantic proximity Read ↗

Revision of diagnosis in a child with type 1 diabetes mellitus due to appropriate genetic testing - Wolfram Syndrome.Semantic proximity Read ↗

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.Semantic proximity Read ↗

Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.Semantic proximity Read ↗

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.Semantic proximity Read ↗

Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.Semantic proximity Read ↗

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).Semantic proximity Read ↗

Wolfram Syndrome: Case series and review of the literatureSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.