(Q73314208)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

M A Willemsen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

J R Cruysberg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

J J Rotteveel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A L Aandekerk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

P H Van Domburg

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A F Deutman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Ophthalmology

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

782-789

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients.

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Unsuccessful dietary treatment of Sjögren-Larsson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

The Sjogren-Larsson Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Sjögren-Larsson syndrome: case reports of two brothers.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Sjögren-Larsson syndrome: explaining the skin-brain connection

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Neuropathological correlation in Sjögren-Larsson syndrome. Oligophrenia, ichthyosis and spasticity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Isolation of animal cell mutants defective in long-chain fatty aldehyde dehydrogenase. Sensitivity to fatty aldehydes and Schiff's base modification of phospholipids: implications for Sj-ogren-Larsson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Pathways for the uptake and conservation of docosahexaenoic acid in photoreceptors and synapses: biochemical and autoradiographic studies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Aldehyde dehydrogenases and their role in carcinogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Leukotrienes: biosynthesis, metabolism, and pathophysiologic significance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Lipid mediators in the rat retina: light exposure and trauma elicit leukotriene B4 release in vitro

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Retinal abnormalities in Alport's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Long-term tamoxifen citrate use and potential ocular toxicity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

7 January 2021

Crystalline retinopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Preterm birth in Sjögren-Larsson syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

Arachidonic acid metabolism in human and bovine retina

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

inferred from DOI database lookup

7 January 2021

based on heuristic

Bietti's Tapetoretinal Degeneration by Marginal Corneal Dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2800%2900576-6

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0002-9394(00)00576-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11124298%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference