ReviewDiagnostics (Basel, Switzerland)2021
Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department.
Review in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.Diagnostics (Basel, Switzerland) · 2026Review
- Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant inCase reports in pathology · 2026Article
- Common features of rare disease patients in the emergency department: a systematised literature review.Orphanet journal of rare diseases · 2025Review
- The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report.Reports (MDPI) · 2025Article
- Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production.Communications biology · 2024Article
- Fatal consequences of limited health literacy in a patient with a rare metabolic disease.Molecular genetics and metabolism reports · 2024Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.
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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.