Ornithine transcarbamylase deficiency: a urea cycle defect (Q35145967)

6 August 2017

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title

Ornithine transcarbamylase deficiency: a urea cycle defect (English)

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6 August 2017

Neil Gordon

1

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6 August 2017

1 January 2003

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European Journal of Paediatric Neurology

6 August 2017

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6 August 2017

7

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6 August 2017

115-121

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6 August 2017

3

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Clumsiness, confusion, coma, and valproate

6 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Under recognition of late onset ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Neurological outcome of patients with ornithine carbamoyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Recurrent brain edema in ornithine-transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

A case of acrodermatitis enteropathica-like dermatosis caused by ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Ornithine transcarbamylase deficiency and pancreatitis

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

An autopsy case of ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

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%2FS1090-3798%2803%2900040-0

7 January 2021

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Prenatal diagnosis of ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Flumazenil responsive ornithine transcarbamylase deficiency encephalopathy: clinical and radiographic features

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Ornithine transcarbamylase deficiency: a case report.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Evidence for a central cholinergic deficit in congenital ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Regional amino acid neurotransmitter changes in brains of spf/Y mice with congenital ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

The molecular basis of ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

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%2FS1090-3798%2803%2900040-0

7 January 2021

Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Continuous arteriovenous hemodiafiltration in the acute treatment of hyperammonaemia due to ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Continuous venovenous haemofiltration in hyperammonaemic coma of an adult with non-diagnosed partial ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Quinolinic acid in children with congenital hyperammonemia

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Histological improvement in native liver after auxiliary partial liver transplantation for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Long-term correction of urea cycle disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Treatment of ornithine transcarbamylase deficiency in girls by auxiliary liver transplantation: conceptual changes in a living-donor program

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Strategy used to overcome graft atrophy in auxiliary partial orthotopic liver transplantation from a living donor for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Severe late acute allograft rejection in a child after living-related auxiliary partial orthotopic liver transplantation for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

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%2FS1090-3798%2803%2900040-0

7 January 2021

Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

Recombinant adenovirus gene transfer in adults with partial ornithine transcarbamylase deficiency (OTCD).

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0

7 January 2021

10.1016/S1090-3798(03)00040-0

Identifiers

DOI

1 reference

6 August 2017

1 reference

PubMed ID

12788037