(Q51756399)

English

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.

scientific article published in May 2007

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Ingemar Björkhem

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Ingemar Björkhem

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

M Hansson

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

M Olin

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

C-H Floren

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

S von Bahr

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

F van't Hooft

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

G Eggertsen

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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publication date

1 May 2007

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Journal of Internal Medicine

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

261

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

504-510

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17444890%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Removal of cholesterol from extrahepatic sources by oxidative mechanisms

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2796.2007.01782.X

21 January 2018

27-hydroxycholesterol is an endogenous ligand for liver X receptor in cholesterol-loaded cells

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2796.2007.01782.X

21 January 2018

Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1)

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2796.2007.01782.X

21 January 2018

Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2796.2007.01782.X

21 January 2018

Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2796.2007.01782.X

21 January 2018

Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2796.2007.01782.X

21 January 2018

Transport of cholesterol into mitochondria is rate-limiting for bile acid synthesis via the alternative pathway in primary rat hepatocytes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2796.2007.01782.X

21 January 2018

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