ReviewDialogues in clinical neuroscience2018
An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.
Review in Dialogues in clinical neuroscience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 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
56 citing papers in PubMed.
- Prenatal exposure to antihypertensive medication: A systematic review of neurodevelopmental and educational outcomes.JCPP advances · 2026Article
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- The invisible emergencies: metabolic and neuro-critical disorders often missed in the pediatric ED - a narrative review.International journal of emergency medicine · 2026Review
- Malonyl-CoA Decarboxylase: A Spotlight on Brain Aspects.Brain sciences · 2026Review
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Before hormones: early sex-specific mechanisms shaping nervous system development, function, and postnatal disease susceptibility.Frontiers in behavioral neuroscience · 2026Review
- Metabolic functions for molecular chaperones and stress proteins in microcephaly.Cellular and molecular life sciences : CMLS · 2025Review
- Children's health: insights from space medicine on metabolic health.NPJ microgravity · 2025Review
- Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.Journal of inherited metabolic disease · 2025Article
- A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback.Journal of inherited metabolic disease · 2025Review
- BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients.Annals of medicine and surgery (2012) · 2025Article
- The Metabolic Signature of Autism Spectrum Disorders Using Dried Blood Spots at Birth.Psychiatry investigation · 2025Article
- Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism.JIMD reports · 2025Article
- Disulfidptosis in tumor progression.Cell death discovery · 2025Review
- Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.JIMD reports · 2025Article
- Mental Health Across the Metabolic Spectrum.Biological psychiatry global open science · 2025Review
- The multifaceted role of mitochondria in autism spectrum disorder.Molecular psychiatry · 2025Review
- Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.PloS one · 2025Article
- Early identification of fetal growth restriction using ultrasound biometrics and biochemical markers: a comprehensive diagnostic approach.American journal of translational research · 2025Article
- IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.EMBO reports · 2024Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of monogenic disease can become an IEM. Clinical features are very diverse and may present as a neurodevelopmental disorder (antenatal or late-onset), as well as an intermittent, a fixed chronic, or a progressive and late-onset neurodegenerative disorder. This also occurs within the same disorder in which a continuum spectrum of severity is frequently observed. In general, the small molecule defects have screening metabolic markers and many are treatable. By contrast only a few complex molecules defects have metabolic markers and most of them are not treatable so far. Recent molecular techniques have considerably contributed in the description of many new diseases and unexpected phenotypes. This paper provides a comprehensive list of IEMs that affect neurodevelopment and may also present with neurodegeneration.
Indexed as
Identifiers
30936770PMC6436954What 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.