ArticlePediatric radiology2015
Glutaric aciduria type 1: neuroimaging features with clinical correlation.
Article in Pediatric radiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Magnetic Resonance Imaging Findings During Encephalopathic Crisis in Glutaric Aciduria Type 1: Expanding the Radiologic Phenotype.Annals of Indian Academy of Neurology · 2026Article
- Clinical and neuroimaging features of familial hemophagocytic lymphohistiocytosis.Pediatric radiology · 2026Article
- Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1.Orphanet journal of rare diseases · 2025Observational
- Neuroimaging in Children With Inherited Metabolic Epilepsies.Neurology · 2025Review
- Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.European journal of pediatrics · 2024Article
- Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings.Radiology case reports · 2024Article
- Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging.AJNR. American journal of neuroradiology · 2023Article
- Central tegmental tract hyperintensity: follow-up outcomes from a single-center study.Neuroradiology · 2023Article
- Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.BMC pediatrics · 2021Article
- Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.JIMD reports · 2021Article
- Glutaric Aciduria Type 1: A Case Report and Review of Literature.Journal of pediatric intensive care · 2021Article
- Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.Frontiers in genetics · 2021Article
- Diagnostic Approach to Macrocephaly in Children.Frontiers in pediatrics · 2021Review
- Audiological and otologic manifestations of glutaric aciduria type I.Orphanet journal of rare diseases · 2020Article
- Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children.Brain sciences · 2020Review
- Movement Disorders and Renal Diseases.Movement disorders clinical practice · 2020Review
- Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.Metabolic brain disease · 2019Article
- Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.Metabolic brain disease · 2019Article
- The value of CSF flow studies in the management of CSF disorders in children: a pictorial review.Insights into imaging · 2019Review
- Neurometabolic disorders and congenital malformations of the central nervous system.Neurosciences (Riyadh, Saudi Arabia) · 2018Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlutaric aciduria type 1 is a rare neurometabolic disease with high morbidity.
objectiveTo describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features. MATERIALS AND
methodsMRI scans of 29 children (mean age: 16.9 months) with confirmed diagnosis of glutaric aciduria type 1 were retrospectively reviewed. Gray matter and white matter scores were calculated based on a previously published pattern-recognition approach of assessing leukoencephalopathies. Hippocampal formation and opercular topography were assessed in relation to the known embryological basis. MRI scores were correlated with morbidity score.
resultsThe most consistent MRI abnormality was widened operculum with dilatation of the subarachnoid spaces surrounding underdeveloped frontotemporal lobes. Incomplete hippocampal inversion was also seen. The globus pallidus was the most frequently involved gray matter structure (86%). In addition to the central tegmental tract, white matter abnormalities preferentially involved the central and periventricular regions. The morbidity score correlated with the gray matter abnormality score (P = 0.004). Patients with dystonia had higher gray matter and morbidity scores.
conclusionMorbidity is significantly correlated with abnormality of gray matter, rather than white matter, whether secondary to acute encephalopathic crisis or insidious onset disease.
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