ReviewDiagnostics (Basel, Switzerland)2022
MR Neuroimaging in Pediatric Inborn Errors of Metabolism.
Review in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06682624 (Magnetic Resonance Imaging Pattern Recognition Approach in Pediatric Inherited Neurodegenerative Diseases), which is not on this map. Cited by 16 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.
Magnetic Resonance Imaging Pattern Recognition Approach in Pediatric Inherited Neurodegenerative Diseases
Who cites it
16 citing papers in PubMed.
- Don't miss this treatable neurogenetic disease!Pediatric radiology · 2026Review
- Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.JIMD reports · 2026Article
- Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.Journal of inherited metabolic disease · 2026Observational
- The invisible emergencies: metabolic and neuro-critical disorders often missed in the pediatric ED - a narrative review.International journal of emergency medicine · 2026Review
- Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation.World journal of transplantation · 2026Review
- Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes.Frontiers in neurology · 2026Article
- Neurodevelopmental disorders in children: the role of MRI in early detection and intervention planning.Frontiers in neuroscience · 2026Review
- MRS-Sim: Open-Source Framework for Simulating In Vivo-Like Magnetic Resonance Spectra.NMR in biomedicine · 2025Article
- Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency.Journal of inherited metabolic disease · 2025Article
- Neuroimaging in Children With Inherited Metabolic Epilepsies.Neurology · 2025Review
- Functional connectivity changes in mouse models of maple syrup urine disease.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- Inherited metabolic epilepsies-established diseases, new approaches.Epilepsia open · 2024Review
- Examining Clinical Features and Severe Neurologic Disease of Parechovirus Infection in Young Infants: A Multistate Cohort Study.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2024Article
- Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation inRadiology case reports · 2024Article
- Oligodendrocyte-derived transcellular signaling regulates axonal energy metabolism.Current opinion in neurobiology · 2023Review
- Mitochondrial Dynamics during Development.Newborn (Clarksville, Md.)Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or more metabolic pathways that can cause considerable morbidity and death if not diagnosed early. While individually rare, the estimated global prevalence of IEMs comprises a substantial number of neonatal and infantile disorders affecting the central nervous system. Clinical manifestations of IEMs may be nonspecific. Newborn metabolic screens do not capture all IEMs, and likewise, genetic testing may not always detect pathogenic variants. Neuroimaging is a critical component of the work-up, given that imaging sometimes occurs before prenatal screen results are available, which may allow for recognition of imaging patterns that lead to early diagnosis and treatment of IEMs. This review will demonstrate the role of magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (
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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.