(Q35151196)

6 August 2017

title

Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families (English)

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6 August 2017

Palmer T

1

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6 August 2017

Oberholzer VG

2

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6 August 2017

Burgess EA

3

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6 August 2017

Butler LJ

4

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6 August 2017

Levin B

5

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6 August 2017

language of work or name

English

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publication date

1 June 1974

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Archives of Disease in Childhood

6 August 2017

published in

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6 August 2017

volume

49

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6 August 2017

issue

6

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6 August 2017

page(s)

443-449

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Sex chromatin and gene action in the mammalian X-chromosome

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

Hereditary metabolic disorders of the urea cycle

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

The effect of protein loads on plasma amino acid levels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

Ornitbine transcarbamylase deficiency in the newborn infant

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1648820

Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase

28 July 2018

1 reference

12 December 2020

Biochemical investigations of hyperammonaemia

1 reference

12 December 2020

Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase

1 reference

12 December 2020

Hyperammonemia: a deficiency of liver ornithine transcarbamylase

1 reference

12 December 2020

Hyperammonemia due to a defect in hepatic ornithine transcarbamylase

1 reference

12 December 2020

Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males

1 reference

12 December 2020

[Hereditary hyperammonemia due to qualitative abnormality of hepatic and intestinal ornithine carbamoyl-transferase]

1 reference

12 December 2020

Congenital hyperammoniemia caused by ornithine carbamoyl-transferase and carbamyl phosphate synthetase deficiency

1 reference

12 December 2020

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.49.6.443

1 reference

6 August 2017

1 reference

6 August 2017

1 reference