ReviewJournal of inherited metabolic disease2004
Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency).
Review in Journal of inherited metabolic disease, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).Journal of inherited metabolic disease · 2007Guideline
- L-carnitine modulates molecular responses associated with inflammation, endoplasmic reticulum stress, and neurotrophic signaling in cerebral cortex of neonatal GcdhMetabolic brain disease · 2026Article
- Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice.Neurotoxicity research · 2018Article
- Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.Clinical case reports · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.Iranian journal of child neurology · 2017Article
- A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.Orphanet journal of rare diseases · 2015Article
- Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.Journal of inherited metabolic disease · 2014Article
- Metabolic disturbances in diseases with neurological involvement.Aging and disease · 2014Review
- Article
- Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.Journal of inherited metabolic disease · 2013Review
- Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.The neuroradiology journal · 2013Article
- Metabolic causes of epileptic encephalopathy.Epilepsy research and treatment · 2013Article
- Diagnosis and management of glutaric aciduria type I--revised recommendations.Journal of inherited metabolic disease · 2011Review
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.Annals of Indian Academy of Neurology · 2008Article
- Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency.Journal of inherited metabolic disease · 2007Article
- Glutaric acidemia type 1.American journal of medical genetics. Part C, Seminars in medical genetics · 2006Review
- Glutaric acid administration impairs energy metabolism in midbrain and skeletal muscle of young rats.Neurochemical research · 2005Article
- Emergency treatment in glutaryl-CoA dehydrogenase deficiency.Journal of inherited metabolic disease · 2004Review
- Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.Journal of inherited metabolic disease · 2004Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This article summarizes the magnetic resonance imaging features of glutaric aciduria type I (GA I) based on the cases presented at the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency together with a review of previously reported neuroimaging characteristics of GA I. Previous reports have focused on characteristic findings, such as basal ganglia injury and frontotemporal atrophy or hypoplasia, subdural effusions and white-matter disease. Most of these findings have been demonstrated in symptomatic children, i.e. after manifestation of acute encephalopathic crises. In contrast, prospective investigations in presymptomatically diagnosed children are rare. Since more recent investigations have highlighted CNS changes in patients without encephalopathic crises, systematic prospective investigations of neuroradiological findings in this disease are indispensable for a better understanding of this disease. Based on these findings a suggestion for a MRI protocol is presented, supporting a standardized evaluation of patients with GA I.
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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.