ArticleJournal of inherited metabolic disease2018
The phenotype of adult versus pediatric patients with inborn errors of metabolism.
Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden.JIMD reports · 2026Article
- Optimising Formulations for Paediatric Patients with Inherited Metabolic Disorders: The Case Study of Levocarnitine.Pharmaceutical medicine · 2026Review
- Article
- Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.Sisli Etfal Hastanesi tip bulteni · 2025Article
- Late-onset Very long-chain acyl-CoA dehydrogenase deficiency diagnosis complicated by fulminant myocarditis in adult patient.Journal of intensive medicine · 2024Article
- 2022 Overview of Metabolic Epilepsies.Genes · 2022Review
- Social and medical needs of rare metabolic patients: results from a MetabERN survey.Orphanet journal of rare diseases · 2021Review
- Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.JAMA network open · 2021Article
- Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey.Frontiers in medicine · 2021Article
- The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.Molecular genetics and metabolism reports · 2020Article
- Education and training in adult metabolic medicine: Results of an international survey.JIMD reports · 2019Article
- An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.Dialogues in clinical neuroscience · 2018Review
- Movement Disorders in Inherited Metabolic Diseases in Children.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Until recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term "inborn," and the concept of adult onset IEM has only very recently reached the adult medical community. Still, an increasing number of adult onset IEM have now been recognized, as new metabolomics and molecular diagnostic techniques have become available. Here, we discuss possible mechanisms underlying phenotypic variability in adult versus children with IEM. Specifically, phenotypic severity and age of onset are expected to be modulated by differences in residual protein activity possibly driven by various genetic factors. Phenotypic variability may also occur in the context of similar protein expression, which suggests the intervention of environmental, ontogenic, and aging factors.
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