ReviewOrphanet journal of rare diseases2023
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Review in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic mutation patterns in Indonesian children with primary steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Imerslund-Gräsbeck Syndrome Caused by Compound Heterozygous Mutations in theClinical case reports · 2026Article
- The Long and the Short of it: How Cubilin Isoforms are Affected by Genetic Variants.Kidney international reports · 2026Article
- Tubulointerstitial inflammation and fibrosis induced by proteinuria: fresh insights.Frontiers in pharmacology · 2026Review
- Case Report: Imerslund Grasbeck syndrome: a rare cause of megaloblastic anemia in a well-nourished child.Frontiers in nutrition · 2026Article
- Case Report: When metabolism meets malabsorption: Imerslund-Gräsbeck syndrome with coexisting propionic acidemia presenting as recurrent metabolic crises.Frontiers in nutrition · 2026Article
- Developmental regulation of intestinalbioRxiv : the preprint server for biology · 2025Article
- Imerslund-Gräsbeck syndrome presenting with a 12-year history of intermittent proteinuria and anemia: a case from the Middle East.BMC pediatrics · 2025Article
- Unmasking a Rare Cause of Macrocytic Anemia and Proteinuria in a Child.Indian pediatrics · 2025Article
- Imerslund Grasbeck Syndrome: A Propos of Two Cases.Indian journal of pediatrics · 2025Article
- Multifaceted Clinical Spectrum of Vitamin B12 Deficiency - a Case Report and Literature Review.Journal of blood medicine · 2025Article
- Vitamin B12 deficiency in a young male with Imerslund-Gräsbeck syndrome: case report.Frontiers in pediatrics · 2025Article
- Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes.The application of clinical genetics · 2025Article
- Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.Italian journal of pediatrics · 2024Article
- Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy.Italian journal of pediatrics · 2024Article
- Vitamin BInternational journal of molecular sciences · 2024Review
- Controversy between biopsy and risk in children with proteinuria: is there a paradigm war?BMC nephrology · 2024Article
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
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients.
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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.