(Q46298948)

21 December 2017

title

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. (English)

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21 December 2017

author name string

M G M de Sain-van der Velden

1

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21 December 2017

A Verrips

2

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21 December 2017

B H C M T Prinsen

3

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21 December 2017

M de Barse

4

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21 December 2017

R Berger

5

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21 December 2017

G Visser

6

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21 December 2017

publication date

24 October 2008

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21 December 2017

Journal of Inherited Metabolic Disease

published in

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21 December 2017

volume

31 Suppl 2

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21 December 2017

page(s)

S387-93

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21 December 2017

https://scigraph.springernature.com/pub.10.1007/s10545-008-0963-1

exact match

0 references

cites work

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Effect of 25-hydroxycholesterol and bile acids on the regulation of cholesterol metabolism in Hep G2 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Sterol parameters as markers of liver function in primary biliary cirrhosis before and after liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Metabolism of beta-sitosterol in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Bile alcohol metabolism in man. Conversion of 5beta-cholestane-3alpha, 7alpha,12alpha, 25-tetrol to cholic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Biosynthesis of bile acids in cerebrotendinous xanthomatosis. Relationship of bile acid pool sizes and synthesis rates to hydroxylations at C-12, C-25, and C-26

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0963-1

High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis

21 January 2018

1 reference

12 December 2020

Inhibition of cholesterogenesis decreases hepatic secretion of apoB-100 in normolipidemic subjects

1 reference

12 December 2020

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis

1 reference

12 December 2020

Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees

1 reference

12 December 2020

Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use

1 reference

12 December 2020

Aneurysmal coronary artery disease in cerebrotendinous xanthomatosis

1 reference

12 December 2020

Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis.

1 reference

12 December 2020

Determination of hepatic 3-hydroxy-3-methylglutaryl CoA reductase activity in man

1 reference

12 December 2020

Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis

1 reference

12 December 2020

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping

1 reference

12 December 2020

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family

1 reference

12 December 2020

Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis

1 reference

12 December 2020

10.1007/S10545-008-0963-1

Identifiers

DOI

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21 December 2017

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21 December 2017