ReviewSeminars in pediatric neurology2012
Patterns of brain injury in inborn errors of metabolism.
Review in Seminars in pediatric neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.Journal of inherited metabolic disease · 2025Pooled it
- Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years.Neurocritical care · 2025Article
- Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats.Frontiers in veterinary science · 2024Article
- Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.Journal of medical case reports · 2018Review
- Neurometabolic disorders and congenital malformations of the central nervous system.Neurosciences (Riyadh, Saudi Arabia) · 2018Review
- Observational
- Multifactorial Effects on Different Types of Brain Cells Contribute to Ammonia Toxicity.Neurochemical research · 2017Review
- Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Ammonia, like K(+), stimulates the Na(+), K(+), 2 Cl(-) cotransporter NKCC1 and the Na(+),K(+)-ATPase and interacts with endogenous ouabain in astrocytes.Neurochemical research · 2015Review
- Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study.Indian journal of psychological medicineArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Many inborn errors of metabolism (IEMs) are associated with irreversible brain injury. For many, it is unclear how metabolite intoxication or substrate depletion accounts for the specific neurologic findings observed. IEM-associated brain injury patterns are characterized by whether the process involves gray matter, white matter, or both, and beyond that, whether subcortical or cortical gray matter nuclei are involved. Despite global insults, IEMs may result in selective injury to deep gray matter nuclei or white matter. This manuscript reviews the neuro-imaging patterns of neural injury in selected disorders of metabolism involving small molecule and macromolecular disorders (ie, Phenylketonuria, urea cycle disorders, and maple syrup urine disease) and discusses the contribution of diet and nutrition to the prevention or exacerbation of injury in selected inborn metabolic disorders. Where known, a review of the roles of individual differences in blood-brain permeability and transport mechanisms in the etiology of these disorders will be discussed.
Indexed as
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What 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.