ArticleCase reports in endocrinology2018
Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies.
Article in Case reports in endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Mitochondrial dysfunction in neurodegenerative disorders: mechanisms and therapeutic advances.Molecular biomedicine · 2026Review
- Pregnancy and Peripartum Multidisciplinary Management in Wolfram Syndrome Type 1: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- Gonadal Dysfunction in Wolfram Syndrome: A Prospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- Identification of a pathogenic founder variant in theFrontiers in pediatrics · 2025Article
- Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.Frontiers in medicine · 2025Article
- Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.Journal of medical case reports · 2023Article
- Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.International journal of molecular sciences · 2023Review
- Wolfram syndrome with a rare genetic mutation - Case report.Indian journal of ophthalmology · 2022Article
- Wolfram Syndrome 1: From Genetics to Therapy.International journal of environmental research and public health · 2022Review
- Metabolic Treatment of Wolfram Syndrome.International journal of environmental research and public health · 2022Review
- Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.Human molecular genetics · 2021Article
- Wolfram Syndrome: A rare cause of progressive cerebellar ataxia.Neurology. Clinical practice · 2019Article
- A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.Clinical case reports · 2019Article
- Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.Journal of translational medicine · 2019Review
- Type 2 Diabetes Mellitus or Maturity Onset Diabetes in the Young Due to Wolfram Syndrome Gene-1 Mutation-A Perplexing Case.AACE endocrinology and diabetesArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundClassical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in CASE: We describe a woman without risk factors for gestational or type 2 diabetes who presented with gestational diabetes (GDM) at the age of 39 years during her first and only pregnancy. Although she had optic atrophy since the age of 10 years, WS was not considered as her diagnosis until she presented with GDM. Biallelic mutations in
conclusionsThe distinct natural history, complications, and differences in management reinforce the importance of distinguishing WS from other forms of diabetes. Recent advances in the genetics and pathophysiology of WS have led to promising new therapeutic considerations that may preserve
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Registered trials
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.