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Ornithine transcarbamylase deficiency: a urea cycle defect
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Ornithine transcarbamylase deficiency: a urea cycle defect
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
author name string
Neil Gordon
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
publication date
1 January 2003
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
published in
European Journal of Paediatric Neurology
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
volume
7
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
issue
3
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stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
page(s)
115-121
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
cites work
Clumsiness, confusion, coma, and valproate
1 reference
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Under recognition of late onset ornithine transcarbamylase deficiency
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Neurological outcome of patients with ornithine carbamoyltransferase deficiency
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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Recurrent brain edema in ornithine-transcarbamylase deficiency.
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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A case of acrodermatitis enteropathica-like dermatosis caused by ornithine transcarbamylase deficiency
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Ornithine transcarbamylase deficiency and pancreatitis
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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An autopsy case of ornithine transcarbamylase deficiency.
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Prenatal diagnosis of ornithine transcarbamylase deficiency
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Flumazenil responsive ornithine transcarbamylase deficiency encephalopathy: clinical and radiographic features
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Ornithine transcarbamylase deficiency: a case report.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Evidence for a central cholinergic deficit in congenital ornithine transcarbamylase deficiency.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Regional amino acid neurotransmitter changes in brains of spf/Y mice with congenital ornithine transcarbamylase deficiency.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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inferred from DOI database lookup
Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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The molecular basis of ornithine transcarbamylase deficiency.
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.
1 reference
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients
1 reference
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Continuous arteriovenous hemodiafiltration in the acute treatment of hyperammonaemia due to ornithine transcarbamylase deficiency
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Continuous venovenous haemofiltration in hyperammonaemic coma of an adult with non-diagnosed partial ornithine transcarbamylase deficiency
1 reference
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Quinolinic acid in children with congenital hyperammonemia
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency
1 reference
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Histological improvement in native liver after auxiliary partial liver transplantation for ornithine transcarbamylase deficiency
1 reference
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Long-term correction of urea cycle disorders
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Treatment of ornithine transcarbamylase deficiency in girls by auxiliary liver transplantation: conceptual changes in a living-donor program
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
based on heuristic
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Strategy used to overcome graft atrophy in auxiliary partial orthotopic liver transplantation from a living donor for ornithine transcarbamylase deficiency
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
based on heuristic
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Severe late acute allograft rejection in a child after living-related auxiliary partial orthotopic liver transplantation for ornithine transcarbamylase deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
based on heuristic
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A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Recombinant adenovirus gene transfer in adults with partial ornithine transcarbamylase deficiency (OTCD).
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
based on heuristic
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First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900040-0
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7 January 2021
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Identifiers
DOI
10.1016/S1090-3798(03)00040-0
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
PubMed ID
12788037
1 reference
stated in
Europe PubMed Central
PubMed ID
12788037
retrieved
6 August 2017
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