(Q37049050)

17 August 2017

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

1 reference

17 August 2017

A L Gropman

1

1 reference

17 August 2017

S T Fricke

2

1 reference

17 August 2017

R R Seltzer

3

1 reference

17 August 2017

A Hailu

4

1 reference

17 August 2017

A Adeyemo

5

1 reference

17 August 2017

A Sawyer

6

1 reference

17 August 2017

J van Meter

7

1 reference

17 August 2017

W D Gaillard

8

1 reference

17 August 2017

R McCarter

9

1 reference

17 August 2017

M Tuchman

10

1 reference

17 August 2017

M Batshaw

11

1 reference

17 August 2017

Urea Cycle Disorders Consortium

12

1 reference

17 August 2017

26 July 2008

1 reference

Molecular Genetics and Metabolism

17 August 2017

1 reference

17 August 2017

95

1 reference

17 August 2017

1-2

1 reference

17 August 2017

21-30

1 reference

Glutamine in the central nervous system: function and dysfunction.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Issues of spectral quality in clinical 1H-magnetic resonance spectroscopy and a gallery of artifacts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Cognitive outcome in urea cycle disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Cloning and expression of the human N-acetylglutamate synthase gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Glutamine synthetase in brain: effect of ammonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Neurological outcome of patients with ornithine carbamoyltransferase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Evidence supporting a role for N-acetyl-L-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Cramér-Rao bounds: an evaluation tool for quantitation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Development of the human brain: in vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Cognitive development in children with inborn errors of urea synthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Metabolic disorders of the brain in chronic hepatic encephalopathy detected with H-1 MR spectroscopy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Ornitbine transcarbamylase deficiency in the newborn infant

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Natural history of symptomatic partial ornithine transcarbamylase deficiency.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Behavioral and neurotransmitter changes in the urease-infused rat: a model of congenital hyperammonemia.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Glutamine in the mechanism of ammonia-induced astrocyte swelling

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Effect of osmolality and anion channel inhibitors on myo-inositol efflux in cultured astrocytes.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Cerebral abnormalities in patients with cirrhosis detected by proton magnetic resonance spectroscopy and magnetic resonance imaging.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3724938

Estimated frequency of urea cycle enzymopathies in Japan

4 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

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

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

7 January 2021

https://pubmed.ncbi.nlm.nih.gov/18662894

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

Ornithine transcarbamylase deficiency presenting with strokelike episodes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

Estimation of metabolite concentrations from localized in vivo proton NMR spectra

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

Evidence supporting a role for N-acetyl-l-aspartate as a molecular water pump in myelinated neurons in the central nervous system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

Observation of cerebral metabolites in an animal model of acute liver failure in vivo: a 1H and 31P nuclear magnetic resonance study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.003

10.1016/J.YMGME.2008.06.003

7 January 2021

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

1 reference