(Q33476720)

27 July 2017

Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults (English)

1 reference

27 July 2017

Andrea L Gropman

1

1 reference

27 July 2017

Napapon Sailasuta

2

1 reference

27 July 2017

Kent C Harris

3

1 reference

27 July 2017

Osama Abulseoud

4

1 reference

27 July 2017

Brian D Ross

5

1 reference

27 July 2017

language of work or name

English

0 references

publication date

30 June 2009

1 reference

27 July 2017

1 reference

27 July 2017

252

1 reference

27 July 2017

3

1 reference

27 July 2017

833-841

1 reference

Clinical NOE 13C MRS for neuropsychiatric disorders of the frontal lobe

27 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Measurements of the anaplerotic rate in the human cerebral cortex using 13C magnetic resonance spectroscopy and [1-13C] and [2-13C] glucose

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Ornitbine transcarbamylase deficiency in the newborn infant

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Cognitive development in children with inborn errors of urea synthesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Automated data processing of [1H-decoupled] 13C MR spectra acquired from human brain in vivo.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Reduced glutamate neurotransmission in patients with Alzheimer's disease -- an in vivo (13)C magnetic resonance spectroscopy study.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

[1-13C]glucose MRS in chronic hepatic encephalopathy in man.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Direct determination of the N-acetyl-L-aspartate synthesis rate in the human brain by (13)C MRS and [1-(13)C]glucose infusion

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

In vivo quantitation of cerebral metabolite concentrations using natural abundance 13C MRS at 1.5 T.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Localized in vivo 13C-NMR of glutamate metabolism in the human brain: initial results at 4 tesla.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Cellular mechanisms of brain energy metabolism. Relevance to functional brain imaging and to neurodegenerative disorders.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734894

Effects of ammonia on the anaplerotic pathway and amino acid metabolism in the brain: an ex vivo 13C NMR spectroscopic study of rats after administering [2-13C]] glucose with or without ammonium acetate

31 October 2018

1 reference

12 December 2020

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

1 reference

12 December 2020

Urea cycle defect: a case with MR and CT findings resembling infarct

1 reference

12 December 2020

Ornithine transcarbamylase deficiency presenting with strokelike episodes

1 reference

12 December 2020

10.1148/RADIOL.2523081878

Identifiers

DOI

1 reference

27 July 2017

1 reference

27 July 2017

1 reference