(Q43862160)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

cerebrotendinous xanthomatosis

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

M T Dotti

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

A Rufa

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 December 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

6 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

page(s)

696-706

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804206%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1012981019336

6 December 2019

exact match

0 references

cites work

Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis

1 reference

12 December 2020

The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature

1 reference

12 December 2020

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

1 reference

12 December 2020

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity

1 reference

12 December 2020

A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens

1 reference

12 December 2020

Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism

1 reference

12 December 2020

Biochemical Abnormalities in Cerebrotendinous Xanthomatosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Cholesterol and cataracts

1 reference

12 December 2020

Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis.

1 reference

12 December 2020

Atherogenic risk factors in cerebrotendinous xanthomatosis.

1 reference

12 December 2020

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

1 reference

12 December 2020

Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing.

1 reference

12 December 2020

The mechanisms of cataract formation

1 reference

12 December 2020

Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis

1 reference

12 December 2020

Age-related macular degeneration

1 reference

12 December 2020

Ocular and systemic manifestations of cerebrotendinous xanthomatosis.

1 reference

12 December 2020

Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum

1 reference

12 December 2020

Treatment of cerebrotendinous xanthomatosis

1 reference

12 December 2020

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

1 reference

12 December 2020

Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features

1 reference

12 December 2020

Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid

1 reference

12 December 2020

Effects of cholestanol feeding on corneal dystrophy in mice.

1 reference

12 December 2020

Drusen in age-related macular degeneration: pathogenesis, natural course, and laser photocoagulation-induced regression

1 reference

12 December 2020