(Q55485687)

12 July 2018

review article

1 reference

title

The eye and inherited metabolic disease: a review. (English)

1 reference

12 July 2018

1 reference

A Michalski

1

1 reference

12 July 2018

J V Leonard

series ordinal

2

1 reference

12 July 2018

D S Taylor

series ordinal

3

1 reference

12 July 2018

language of work or name

English

0 references

publication date

1 May 1988

1 reference

12 July 2018

Journal of the Royal Society of Medicine

published in

1 reference

12 July 2018

volume

81

1 reference

12 July 2018

issue

5

1 reference

12 July 2018

page(s)

286-290

1 reference

12 July 2018

Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Long-term management of abetalipoproteinaemia. Possible role for vitamin E

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

The Richner-Hanhart syndrome: report of a case with associated tyrosinemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Tyrosine-induced skin disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Vitamin B6 in management of gyrate atrophy of choroid and retina

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Keratopathy in tyrosinemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Deoxyribose-5-phosphate aldolase deficiency--a harmless inborn error of metabolism

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Differential diagnosis between the primary total choroidal vascular atrophies

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Soluble tyrosine aminotransferase deficiency: an unusual cause of corneal ulcers.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Vascular disease and homocysteine metabolism.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinaemia

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Peroxisomal disorders: a newly recognised group of genetic diseases

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1291590

Gyrate Atrophy of the Choroid and Retina with Hyperornithinemia

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3290483

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Retinal boundaries and visual function in gyrate atrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3290483

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3290483

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1177/014107688808100517

1 reference

12 July 2018

PMC publication ID

1291590

1 reference

12 July 2018

PubMed publication ID

3290483

1 reference

12 July 2018