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Brain imaging in urea cycle disorders
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PubMed
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Europe PubMed Central
title
Brain imaging in urea cycle disorders
(English)
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PubMed
main subject
brain
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author name string
Andrea Gropman
series ordinal
1
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Crossref
publication date
2010
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PubMed
published in
Molecular Genetics and Metabolism
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PubMed
volume
100 Suppl 1
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stated in
PubMed
page(s)
S20-30
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PubMed
cites work
The aquaporins
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PubMed Central
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MR diffusion tensor spectroscopy and imaging
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PubMed Central
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Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat
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PubMed Central
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20 March 2017
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion
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Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts
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29 September 2017
Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults
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29 September 2017
Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders
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29 September 2017
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29 September 2017
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency
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PubMed Central
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29 September 2017
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
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29 September 2017
Longitudinal changes in patients with traumatic brain injury assessed with diffusion-tensor and volumetric imaging
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Classification of white matter lesions on magnetic resonance imaging in elderly persons
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Glial cell aquaporin-4 overexpression in transgenic mice accelerates cytotoxic brain swelling.
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29 September 2017
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations
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PubMed Central
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29 September 2017
Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo
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29 September 2017
Inefficient cognitive control in adult ADHD: evidence from trial-by-trial Stroop test and cued task switching performance
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29 September 2017
Mechanisms of ammonia-induced astrocyte swelling
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PubMed Central
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29 September 2017
Cerebral metabolic disturbances in the brain during acute liver failure: from hyperammonemia to energy failure and proteolysis
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PubMed Central
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29 September 2017
Adult onset ornithine transcarbamylase deficiency: an unusual cause of semantic disorders.
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PubMed Central
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29 September 2017
Cognitive outcome in urea cycle disorders
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258295
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29 September 2017
Neurobiology of ammonia.
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PubMed Central
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29 September 2017
Neurological outcome of patients with ornithine carbamoyltransferase deficiency
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258295
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29 September 2017
Effects of hyperammonaemia on brain function
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258295
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29 September 2017
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency
1 reference
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PubMed Central
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29 September 2017
Metabolic trafficking between neurons and astrocytes: the glutamate/glutamine cycle revisited
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PubMed Central
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29 September 2017
Neurologic syndromes in hyperammonemic disorders
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258295
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29 September 2017
Behavioral and psychophysiological markers of disordered attention
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29 September 2017
Cognitive development in children with inborn errors of urea synthesis
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PubMed Central
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29 September 2017
Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3258295
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29 September 2017
Ornithine carbamoyl transferase deficiency: findings, models and problems
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29 September 2017
Metabolic disorders of the brain in chronic hepatic encephalopathy detected with H-1 MR spectroscopy
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29 September 2017
Sparse-fur (spf) mouse as a model of hyperammonemia: alterations in the neurotransmitter systems.
1 reference
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PubMed Central
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2 June 2018
Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency.
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PubMed Central
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2 June 2018
Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency
1 reference
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PubMed Central
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2 June 2018
Ornithine carbamoyl transferase deficiency: a neuropathological study
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PubMed Central
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2 June 2018
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.
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2 June 2018
Neuropathology of ornithine carbamyl transferase deficiency.
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2 June 2018
Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.
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2 June 2018
Severe cerebral damage in ornithine transcarbamylase deficiency
1 reference
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PubMed Central
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2 June 2018
Late onset ornithine carbamoyl transferase deficiency in males
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2 June 2018
Excitatory and inhibitory amino acid neurotransmitters and ammonia metabolism in hepatic failure rats.
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2 June 2018
A case of ornithine transcarbamylase deficiency with acute and late onset simulating Reye's syndrome in an adult male
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2 June 2018
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
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27 November 2018
Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy
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27 November 2018
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency
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27 November 2018
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening
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27 November 2018
Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency
1 reference
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PubMed Central
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27 November 2018
Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma.
1 reference
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27 November 2018
Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency
1 reference
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PubMed Central
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27 November 2018
Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.
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27 November 2018
[1-13C]glucose MRS in chronic hepatic encephalopathy in man.
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27 November 2018
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse.
1 reference
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PubMed Central
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27 November 2018
Hyperammoniemic coma in an adolescent girl: an unusual case of ornithine transcarbamylase deficiency.
1 reference
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PubMed Central
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27 November 2018
Subclinical hepatic encephalopathy: proton MR spectroscopic abnormalities
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27 November 2018
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
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7 January 2021
Ornithine transcarbamylase deficiency presenting with strokelike episodes
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Crossref
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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.017
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7 January 2021
Increase of Tryptophan and 5-Hydroxyindole Acetic Acid in the Brain of Ornithine Carbamoyltransferase Deficient Sparse-Fur Mice
1 reference
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Crossref
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7 January 2021
Estimation of metabolite concentrations from localized in vivo proton NMR spectra
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Crossref
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7 January 2021
Glutamine synthetase inhibition prevents cerebral oedema during hyperammonemia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/20207564
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.YMGME.2010.01.017
0 references
PMCID
3258295
1 reference
stated in
PubMed
PubMed ID
20207564
1 reference
stated in
PubMed
ResearchGate publication ID
41808199
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