ReviewFrontiers in neurology2021
Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue.
Review in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord.Diagnostics (Basel, Switzerland) · 2026Article
- A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.Clinical case reports · 2026Article
- A Machine Learning Approach to Differentiate Congenital and Transient Neonatal Hyperammonemia: A 10-Year Case Series.Cureus · 2025Article
- [Biological characteristics of liver zonation and its role in disease and aging].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Review
- Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years.Neurocritical care · 2025Article
- The Role of the Urea Cycle in the Alzheimer's Disease Brain.Journal of neurochemistry · 2025Review
- The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.Journal of inherited metabolic disease · 2024Article
- MRI predictors of long-term outcomes of neonatal hypoxic ischaemic encephalopathy: a primer for radiologists.The British journal of radiology · 2024Review
- Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.Molecular genetics & genomic medicine · 2024Review
- Citrulline in the management of patients with urea cycle disorders.Orphanet journal of rare diseases · 2023Article
- Hyperammonemic Encephalopathy in a Patient with Pancreatic Neuroendocrine Tumor and Portosystemic Shunt.Diagnostics (Basel, Switzerland) · 2023Article
- Review
- ClinicalNeuroradiology · 2022Review
- New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.Brain sciences · 2022Article
- Neuromonitoring in Rare Disorders of Metabolism.The Yale journal of biology and medicine · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
The urea cycle disorders (UCD) are rare genetic disorder due to a deficiency of one of six enzymes or two transport proteins that act to remove waste nitrogen in form of ammonia from the body. In this review, we focus on neuroimaging studies in OTCD and Arginase deficiency, two of the UCD we have extensively studied. Ornithine transcarbamylase deficiency (OTCD) is the most common of these, and X-linked. Hyperammonemia (HA) in OTCD is due to deficient protein handling. Cognitive impairments and neurobehavioral disorders have emerged as the major sequelae in Arginase deficiency and OTCD, especially in relation to executive function and working memory, impacting pre-frontal cortex (PFC). Clinical management focuses on neuroprotection from HA, as well as neurotoxicity from other known and yet unclassified metabolites. Prevention and mitigation of neurological injury is a major challenge and research focus. Given the impact of HA on neurocognitive function of UCD, neuroimaging modalities, especially multi-modality imaging platforms, can bring a wealth of information to understand the neurocognitive function and biomarkers. Such information can further improve clinical decision making, and result in better therapeutic interventions.
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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.