Ornithine carbamoyltransferase deficiency (Q28345302)

ornithine carbamoyltransferase deficiency

Europe PubMed Central

title

Ornithine carbamoyltransferase deficiency (English)

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main subject

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author name string

J E Wraith

series ordinal

1

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language of work or name

English

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publication date

January 2001

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published in

Archives of Disease in Childhood

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volume

84

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issue

1

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page(s)

84-88

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cites work

Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Late-onset ornithine transcarbamylase deficiency in male patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Under recognition of late onset ornithine transcarbamylase deficiency

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Effects of hyperammonaemia on brain function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Liver transplantation for the treatment of urea cycle disorders

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Long-term treatment of girls with ornithine transcarbamylase deficiency

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Late onset ornithine carbamoyl transferase deficiency in males

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Alternative pathway therapy for urea cycle disorders

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Continuous venovenous hemofiltration with and without dialysis in pediatric patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1718609

Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests

27 November 2018

1 reference

12 December 2020

The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk

1 reference

12 December 2020

Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency

1 reference

12 December 2020

A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy

1 reference

12 December 2020

Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration

1 reference

12 December 2020

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

1 reference

12 December 2020

Dialysis in neonates with inborn errors of metabolism

1 reference

12 December 2020

Liver transplantation in urea cycle disorders

1 reference

12 December 2020

Peritoneal clearance of ammonia and creatinine in a neonate

1 reference

12 December 2020

Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant

1 reference

12 December 2020

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

1 reference

12 December 2020

Efficiency of hemodialysis therapy for a urea cycle defect in a neonate

1 reference

12 December 2020

release_7xpe6c2p2bb6hg4dgmgvdypv2u

Identifiers

DOI

10.1136/ADC.84.1.84

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7xpe6c2p2bb6hg4dgmgvdypv2u

24 November 2022