Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism (Q35019688)

5 August 2017

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title

Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism (English)

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5 August 2017

Asad Mian

1

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PubMed ID

12470992

5 August 2017

Brendan Lee

series ordinal

2

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5 August 2017

1 December 2002

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Trends in Molecular Medicine

5 August 2017

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5 August 2017

8

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5 August 2017

12

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5 August 2017

583-589

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https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

5 August 2017

1 reference

7 January 2021

Neurological outcome of patients with ornithine carbamoyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Proceedings of a consensus conference for the management of patients with urea cycle disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

The molecular basis of ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Glutamate transporter and receptor function in disorders of ammonia metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Laboratory evaluation of urea cycle disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

In vivo nitrogen metabolism in ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Current strategies for the management of neonatal urea cycle disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Long-term treatment of girls with ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Long-term correction of urea cycle disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Liver transplantation in urea cycle disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Evaluation of gene therapy for citrullinaemia using murine and bovine models.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Toxicological comparison of E2a-deleted and first-generation adenoviral vectors expressing alpha1-antitrypsin after systemic delivery

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Differences in the human and mouse amino-terminal leader peptides of ornithine transcarbamylase affect mitochondrial import and efficacy of adenoviral vectors

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Evolution of adenoviruses as gene therapy vectors

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

High-capacity adenoviral vectors for gene transfer and somatic gene therapy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Adenoviral-mediated, high-level, cell-specific transgene expression: a SYN1-WPRE cassette mediates increased transgene expression with no loss of neuron specificity

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Enhanced expression of transgenes from adeno-associated virus vectors with the woodchuck hepatitis virus posttranscriptional regulatory element: implications for gene therapy

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Transient depletion of CD4 lymphocyte improves efficacy of repeated administration of recombinant adenovirus in the ornithine transcarbamylase deficient sparse fur mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

The molecular bases of cystinuria and lysinuric protein intolerance.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Regulation of enzymes of the urea cycle and arginine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

1 reference

https://api.crossref.org/works/10.1016%2FS1471-4914%2802%2902437-1

7 January 2021

10.1016/S1471-4914(02)02437-1

Identifiers

DOI

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release_jp3hf6mjcfe6fnazgvh6slttku

5 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jp3hf6mjcfe6fnazgvh6slttku

24 November 2022

mapped directly with Wikidata item

PubMed ID

12470992

1 reference

PubMed ID

12470992