(Q35055926)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12555943%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

title

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis (English)

1 reference

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17 December 2019

6

1 reference

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17 December 2019

Peter Theodore Clayton

1 reference

ORCID Public Data File 2021

author name string

P T Clayton

1

1 reference

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17 December 2019

A Verrips

2

1 reference

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17 December 2019

E Sistermans

3

1 reference

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17 December 2019

A Mann

4

1 reference

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17 December 2019

G Mieli-Vergani

5

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17 December 2019

publication date

1 October 2002

1 reference

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Journal of Inherited Metabolic Disease

17 December 2019

published in

1 reference

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17 December 2019

volume

25

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17 December 2019

issue

6

1 reference

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17 December 2019

page(s)

501-513

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Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

17 December 2019

cites work

1 reference

12 December 2020

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

1 reference

12 December 2020

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

1 reference

12 December 2020

Urinary bile alcohol profiles in healthy and cholestatic children

1 reference

12 December 2020

Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency.

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial Giant Cell Hepatitis with Low Bile Acid Concentrations and Increased Urinary Excretion of Specific Bile Alcohols: A New Inborn Error of Bile Acid Synthesis?

1 reference

12 December 2020

Cholestenoic Acid Is a Naturally Occurring Ligand for Liver X Receptor α

1 reference

12 December 2020

Alternate pathways of bile acid synthesis in the cholesterol 7alpha-hydroxylase knockout mouse are not upregulated by either cholesterol or cholestyramine feeding.

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group

1 reference

12 December 2020

Transcriptional regulation of the human sterol 27-hydroxylase gene (CYP27) and promoter mapping

1 reference

12 December 2020

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

1 reference

12 December 2020

Removal of cholesterol from extrahepatic sources by oxidative mechanisms

1 reference

12 December 2020

Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study

1 reference

12 December 2020

Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene

1 reference

12 December 2020

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease

1 reference

12 December 2020

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

1 reference

12 December 2020

BAREing it all: the adoption of LXR and FXR and their roles in lipid homeostasis

1 reference

12 December 2020

Treatment and follow-up of children with cerebrotendinous xanthomatosis

1 reference

12 December 2020

Urinary excretion of bile alcohols in normal children and patients with alpha 1-antitrypsin deficiency during development of liver disease

1 reference

12 December 2020

From brain to bile. Evidence that conjugation and omega-hydroxylation are important for elimination of 24S-hydroxycholesterol (cerebrosterol) in humans

1 reference

12 December 2020