ArticleJournal of inherited metabolic disease2015
Quo vadis: the re-definition of "inborn metabolic diseases".
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed.
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback.Journal of inherited metabolic disease · 2025Review
- The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!Journal of inherited metabolic disease · 2025Review
- Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital.JIMD reports · 2024Article
- 3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations.Nutrients · 2023Review
- PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.Metabolites · 2023Article
- Knowledge and awareness level of healthcare professional candidate students on inherited metabolic diseases: a cross-sectional study.BMC medical education · 2023Article
- The landscape of CRISPR/Cas9 for inborn errors of metabolism.Molecular genetics and metabolism · 2023Review
- Editorial: The expanding clinical and genetic basis of adult inherited neurometabolic disorders.Frontiers in neurology · 2023Article
- How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Journal of inherited metabolic disease · 2022Review
- Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.Molecular biology reports · 2022Review
- 2022 Overview of Metabolic Epilepsies.Genes · 2022Review
- Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Article
- COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center.Children (Basel, Switzerland) · 2021Article
- Biosynthesis, Quantification and Genetic Diseases of the Smallest Signaling Thiol Metabolite: Hydrogen Sulfide.Antioxidants (Basel, Switzerland) · 2021Review
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
- Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders-a practical introductory guide.Translational pediatrics · 2021Review
- An international classification of inherited metabolic disorders (ICIMD).Journal of inherited metabolic disease · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
26420281What OpenQuestion holds
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.