(Q35248491)

7 August 2017

title

Color vision defects in adrenomyeloneuropathy (English)

1 reference

7 August 2017

G H Sack

1

1 reference

7 August 2017

M B Raven

series ordinal

2

1 reference

7 August 2017

H W Moser

series ordinal

3

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 June 1989

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

44

1 reference

7 August 2017

issue

6

1 reference

7 August 2017

page(s)

794-798

1 reference

Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy

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=1715662

On quantifying the bipolarity and axis of the Farnsworth-Munsell 100-Hue test.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

The adrenoleukodystrophies.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Electroretinograms in carriers of blue cone monochromatism.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Molecular genetics of inherited variation in human color vision

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Contiguous gene syndromes: a component of recognizable syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Frequent alterations of visual pigment genes in adrenoleukodystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy I. Clinical and endocrinologic aspects

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Proposals for scoring and assessing the 100-Hue test.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715662

Further studies on acquired deficiency of color discrimination

26 September 2018

1 reference

12 December 2020

Identification of female carriers of adrenoleukodystrophy

1 reference

12 December 2020

Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy

1 reference

12 December 2020

Assignment of the gene for dyskeratosis congenita to Xq28

1 reference

12 December 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

12 December 2020

Genetic linkage between X-chromosome markers and bipolar affective illness

1 reference

12 December 2020

Colour vision abnormalities in multiple sclerosis

1 reference

12 December 2020

Tandem array of human visual pigment genes at Xq28

1 reference

12 December 2020

Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids

1 reference

12 December 2020

Heterozygote detection in X-linked recessive incomplete achromatopsia

1 reference

12 December 2020

Identifiers

PMC publication ID

1715662

1 reference

7 August 2017

1 reference