(Q42112096)

16 October 2017

Late onset ornithine carbamoyl transferase deficiency in males (English)

1 reference

16 October 2017

Drogari E

1

1 reference

16 October 2017

Leonard JV

series ordinal

2

1 reference

16 October 2017

language of work or name

English

0 references

publication date

1 November 1988

1 reference

Archives of Disease in Childhood

16 October 2017

1 reference

16 October 2017

63

1 reference

16 October 2017

11

1 reference

16 October 2017

1363-1367

1 reference

Conditions affecting the colorimetry of orotic acid and orotidine in urine.

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

Inborn errors of the urea cycle.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

Atypical Clinical Course of Ornithine Transcarbamyiase Deficiency Due to a New Mutant (Comparison with Reye's Disease)

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

Hereditary ornithine transcarbamylase deficiency. Report of two male cases with residual enzymatic activity

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

New pathways of nitrogen excretion in inborn errors of urea synthesis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1779164

Partial ornithine transcarbamylase deficiency simulating Reye syndrome

29 May 2018

1 reference

12 December 2020

Liver peroxisome damage during acute hepatic failure in partial ornithine transcarbamylase deficiency

1 reference

12 December 2020

Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis

1 reference

12 December 2020

Chronic benzoate therapy in a boy with partial ornithine transcarbamylase deficiency

1 reference

12 December 2020

Ornithine transcarbamylase variant in a male patient

1 reference

12 December 2020

Hereditary ornithine-carbamyl-transferase deficiency with qualitative enzyme abnormality. Report of a form with neonatal revelation and fatal course in a boy

1 reference

12 December 2020

Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency

1 reference

12 December 2020

Ornithine transcarbamylase deficiency in a boy with normal development

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.63.11.1363

1 reference

16 October 2017

1 reference

16 October 2017

PubMed publication ID

3202644

1 reference