(Q35203976)

7 August 2017

title

Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6 (English)

1 reference

gyrate atrophy of the choroid

7 August 2017

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0 references

1 reference

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Kennaway NG

1

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7 August 2017

Weleber RG

series ordinal

2

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7 August 2017

Buist NR

series ordinal

3

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7 August 2017

language of work or name

English

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publication date

1 July 1980

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

32

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7 August 2017

issue

4

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7 August 2017

page(s)

529-541

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Protein measurement with the Folin phenol reagent

7 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=1686127

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Tubular aggregates in type II muscle fibers: Ultrastructural and histochemical correlation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Aggregates of tubules in human cardiac muscle cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

The properties, developmental formation, and estrogen induction of ornithine aminotransferase in rat tissues.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

A Specific Enzyme Defect in Gyrate Atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Chorio-retinal degenerations and aminoaciduria. III. Atrophia gyrata

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Vitamin B6 in management of gyrate atrophy of choroid and retina

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686127

Cystathioninuria: nature of the defect

28 July 2018

1 reference

12 December 2020

Familial pancreatitis

1 reference

12 December 2020

The successful treatment of homocystinuria with pyridoxine

1 reference

12 December 2020

Pyridoxine-responsive genetic disease

1 reference

12 December 2020

Direct determination of polyamines in human serum by radioimmunoassay

1 reference

12 December 2020

Gyrate Atrophy of the Choroid and Retina with Hyperornithinemia

1 reference

12 December 2020

Tubular aggregates induced by anoxia in isolated rat skeletal muscle

1 reference

12 December 2020

Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts

1 reference

12 December 2020

Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina

1 reference

12 December 2020

Gyrate Atrophy of the Retina: Inborn Error of L-Ornithin:2-Oxoacid Aminotransferase

1 reference

12 December 2020

Radioimmunoassay of spermidine in human serum

1 reference

12 December 2020

Hyperornithinemia and gyrate atrophy of the choroid and retina

1 reference

12 December 2020

Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina

1 reference

12 December 2020

Gyrate atrophy of the choroid and retina with hyperornithinemia: Tubular aggregates and type 2 fiber atrophy in muscle

1 reference

12 December 2020

A chromatographic investigation of the amino acid constituents of normal urine

1 reference

12 December 2020

Identifiers

PMC publication ID

1686127

1 reference

7 August 2017

1 reference