ReviewNeurosciences (Riyadh, Saudi Arabia)2018
Neurometabolic disorders and congenital malformations of the central nervous system.
Review in Neurosciences (Riyadh, Saudi Arabia), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 9 citations in OpenAlex.
- The invisible emergencies: metabolic and neuro-critical disorders often missed in the pediatric ED - a narrative review.International journal of emergency medicine · 2026Review
- The fetal neurologist: Strategies to improve training, practice, and clinical care.Developmental medicine and child neurology · 2025Review
- Historic obstacles and emerging opportunities in the field of developmental metabolism - lessons from Heidelberg.Development (Cambridge, England) · 2024Review
- Advantages of CRISPR-Cas9 combined organoid model in the study of congenital nervous system malformations.Frontiers in bioengineering and biotechnology · 2022Review
- Treatable inherited metabolic epilepsies.Neurosciences (Riyadh, Saudi Arabia) · 2021Review
- Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Inherited paediatric neurometabolic disorders, can brain magnetic resonance imaging predict?Neurosciences (Riyadh, Saudi Arabia) · 2020Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways. The anomalies observed include absent or hypoplastic corpus callosum, midline brain defects, and malformations of the cortex, the cerebellum and the brain stem. Early diagnosis of an underlying inherited neurometabolic disorders is critical for the institution of treatment, which may positively influence prognosis, and allow for proper genetic counseling. In this review, we discuss those disorders in which the structural brain malformation is a dominant feature, and propose a practical approach that will permit a physician to investigate, and treat these disorders.
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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.