(Q36793850)

English

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

scientific article published on 11 February 2008

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scholarly article

1 reference

Europe PubMed Central

16 August 2017

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

1 reference

Europe PubMed Central

16 August 2017

author name string

Andrea L Gropman

1

1 reference

Europe PubMed Central

16 August 2017

Rebecca R Seltzer

2

1 reference

Europe PubMed Central

16 August 2017

Marc Yudkoff

3

1 reference

Europe PubMed Central

16 August 2017

Alice Sawyer

4

1 reference

Europe PubMed Central

16 August 2017

John VanMeter

5

1 reference

Europe PubMed Central

16 August 2017

Stanley T Fricke

6

1 reference

Europe PubMed Central

16 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

11 February 2008

1 reference

Europe PubMed Central

16 August 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

16 August 2017

94

1 reference

Europe PubMed Central

16 August 2017

1

1 reference

Europe PubMed Central

16 August 2017

52-60

1 reference

Europe PubMed Central

16 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

Cognitive outcome in urea cycle disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

Cloning and expression of the human N-acetylglutamate synthase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

Cramér-Rao bounds: an evaluation tool for quantitation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

In vivo nitrogen metabolism in ornithine transcarbamylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

Urea cycle disorders: diagnosis, pathophysiology, and therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

27 June 2018

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

5 September 2018

Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

5 September 2018

Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2486377

5 September 2018

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

2 references

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.12.008

7 January 2021

https://pubmed.ncbi.nlm.nih.gov/18262815

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.12.008

7 January 2021

Ornithine transcarbamylase deficiency presenting with strokelike episodes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.12.008

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.12.008

7 January 2021

Estimation of metabolite concentrations from localized in vivo proton NMR spectra

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.12.008

7 January 2021

Identifiers

10.1016/J.YMGME.2007.12.008

1 reference

Europe PubMed Central

16 August 2017

1 reference

Europe PubMed Central

16 August 2017

1 reference

Europe PubMed Central

16 August 2017

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