(Q33618377)

28 July 2017

title

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

1 reference

28 July 2017

1 reference

Kendall BE

1

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28 July 2017

Kingsley DP

2

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28 July 2017

Leonard JV

3

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28 July 2017

Lingam S

4

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28 July 2017

Oberholzer VG

5

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28 July 2017

language of work or name

English

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publication date

1 January 1983

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Journal of Neurology, Neurosurgery and Psychiatry

28 July 2017

published in

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28 July 2017

volume

46

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28 July 2017

issue

1

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28 July 2017

page(s)

28-34

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Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

Hereditary hyperammonaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

Hereditary Hyperammonaemic Syndromes — A Six Year Experience

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1027260

Demyelinating and neuro-degenerative disease in childhood. CT appearances and their differential diagnosis

21 June 2018

1 reference

12 December 2020

Hyperammonemia due to a defect in hepatic ornithine transcarbamylase

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

Systemic carnitine deficiency. Report of a fatal case with multisystemic manifestations

1 reference

12 December 2020

beta-Hydroxy-beta-methyglutaricaciduria presenting as Reye's syndrome

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

The management of life-threatening hyperammonemia: a comparison of several therapeutic modalities.

1 reference

12 December 2020

Ammonia encephalopathy secondary to urinary tract infection with Proteus mirabilis

1 reference

12 December 2020

Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias

1 reference

12 December 2020

Hyperammonemia with valproic acid therapy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.46.1.28

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28 July 2017

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28 July 2017

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