ReviewJournal of inherited metabolic disease2018
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.
Review 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 15 papers.
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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.
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Who cites it
15 citing papers in PubMed.
- Cardiometabolic state links neurovascular burden with brain structure and function: Evidence from EEG and MRI.NeuroImage · 2025Article
- Mental Health Across the Metabolic Spectrum.Biological psychiatry global open science · 2025Review
- Bibliometric analysis and visualization of lipid droplets in the central nervous system: research hotspots and Frontiers (2000-2024).Frontiers in aging neuroscience · 2025Article
- Mitochondrial dysfunction in psychiatric disorders.Schizophrenia research · 2024Review
- A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.International journal of neonatal screening · 2023Article
- Editorial: The expanding clinical and genetic basis of adult inherited neurometabolic disorders.Frontiers in neurology · 2023Article
- Targetable Pathways for Alleviating Mitochondrial Dysfunction in Neurodegeneration of Metabolic and Non-Metabolic Diseases.International journal of molecular sciences · 2021Review
- A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.Orphanet journal of rare diseases · 2021Article
- Nuclear Factor Erythroid-2-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders.Frontiers in cellular neuroscience · 2021Review
- Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain.Biomolecules · 2020Article
- An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.Dialogues in clinical neuroscience · 2018Review
- Synaptic metabolism and brain circuitries in inborn errors of metabolism.Journal of inherited metabolic disease · 2018Article
- Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.Journal of inherited metabolic disease · 2018Article
- Synaptic metabolism: a new approach to inborn errors of neurotransmission.Journal of inherited metabolic disease · 2018Review
- The phenotype of adult versus pediatric patients with inborn errors of metabolism.Journal of inherited metabolic disease · 2018Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fact, as long as biochemistry is involved, any kind of monogenic disease can become an IEM. This new, extended definition includes new categories and mechanisms, and as a general trend will go beyond a single biochemical pathway and/or organelle, and will appear as a connection of multiple crossroads in a system biology approach.From one side, a simplified and updated classification of IEM is presented that mixes elements from the diagnostic approach with pathophysiological considerations into three large categories based on the size of molecules ("small and simple" or "large and complex") and their implication in energy metabolism. But from another side, whatever their size, metabolites involved in IEM may behave in the brain as signalling molecules, structural components and fuels, and many metabolites have more than one role. Neurometabolism is becoming more relevant, not only in relation to these new categories of diseases but also as a necessary way to explain the mechanisms of brain damage in classically defined categories of IEM. Brain metabolism, which has been largely disregarded in the traditional approach to investigating and treating neurological diseases, is a major clue and probably the next imminent "revolution" in neurology and neuroscience. Biochemistry (metabolism) and cell neurobiology need to meet. Additionally, the brain should be studied as a system (connecting different levels of complexity).
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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.