Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina (Q35202683)

7 August 2017

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina (English)

1 reference

gyrate atrophy of the choroid

7 August 2017

1 reference

Shih VE

1

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7 August 2017

Berson EL

series ordinal

2

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7 August 2017

Mandell R

series ordinal

3

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7 August 2017

Schmidt SY

series ordinal

4

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7 August 2017

language of work or name

English

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publication date

1 March 1978

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American Journal of Human Genetics

7 August 2017

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7 August 2017

30

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7 August 2017

2

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7 August 2017

174-179

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Protein measurement with the Folin phenol reagent

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Homocystinuria: Studies in Tissue Culture

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

On the Mechanism of Pyridoxine Responsive Homocystinuria. II. Properties of Normal and Mutant Cystathionine β-Synthase from Cultured Fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Plasma amino-acids in hereditary retinal disease. Ornithine, lysine, and taurine

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Vitamin B 6 -Responsive and -Unresponsive Cystathioninuria: Two Variant Molecular Forms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Studies of Methylmalonyl Coenzyme A Carbonylmutase Activity in Methylmalonic Acidemia. I. Correlation of Clinical, Hepatic, and Fibroblast Data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

STUDIES ON ORNITHINE-KETOACID TRANSAMINASE. I. PURIFICATION AND PROPERTIES.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685558

Cystathioninuria: nature of the defect

26 September 2018

1 reference

12 December 2020

Vitamin B6 dependent xanthurenic aciduria (the second report)

1 reference

12 December 2020

Gyrate Atrophy of the Choroid and Retina with Hyperornithinemia

1 reference

12 December 2020

Pyridoxine-responsive genetic disease

1 reference

12 December 2020

Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 Dependency

1 reference

12 December 2020

Identifiers

PMCID

1685558

1 reference

7 August 2017

1 reference