Problems in the management of urea cycle disorders (Q34309483)

1 August 2017

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title

Problems in the management of urea cycle disorders (English)

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1 August 2017

Bridget Wilcken

1

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1 August 2017

1 April 2004

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Molecular Genetics and Metabolism

1 August 2017

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1 August 2017

81 Suppl 1

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1 August 2017

S86-91

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

1 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Current strategies for the management of neonatal urea cycle disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Amino Acid Acylation: A Mechanism of Nitrogen Excretion in Inborn Errors of Urea Synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Alternative pathway therapy for urea cycle disorders: twenty years later

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Long-term outcome of patients with urea cycle disorders and the question of neonatal screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Long-term management of patients with urea cycle disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

The nutritional management of urea cycle disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.016

10.1016/J.YMGME.2003.10.016

7 January 2021

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

15050980