(Q77929996)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384396%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384396%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

L Ijlst

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384396%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

W Oostheim

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384396%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

M van Werkhoven

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384396%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

M A Willemsen

4

1 reference

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9 December 2019

R J Wanders

5

1 reference

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9 December 2019

publication date

1 May 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384396%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

9 December 2019

published in

1 reference

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9 December 2019

volume

22

1 reference

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9 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384396%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

319-321

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1005508205450

9 December 2019

exact match

0 references

cites work

Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)

1 reference

12 December 2020

Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle

1 reference

12 December 2020

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

1 reference

12 December 2020

Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids

1 reference

12 December 2020

Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients

1 reference

12 December 2020

Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study

1 reference

12 December 2020

Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A common deletion mutation in European patients with Sjögren-Larsson syndrome.

1 reference

12 December 2020