(Q37034717)

17 August 2017

Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis (English)

1 reference

cerebrotendinous xanthomatosis

17 August 2017

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

26 July 2022

author name string

G. Salen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

26 July 2022

S. Shefer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

26 July 2022

F. W. Cheng

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

26 July 2022

B. Dayal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

26 July 2022

A. K. Batta

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

26 July 2022

G. S. Tint

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

26 July 2022

language of work or name

English

0 references

publication date

1 January 1979

1 reference

PMCID

371915

full work available at URL

17 August 2017

https://europepmc.org/articles/PMC371915

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

https://europepmc.org/articles/PMC371915?pdf=render

26 July 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A762246

Journal of Clinical Investigation

26 July 2022

published in

1 reference

17 August 2017

63

1 reference

17 August 2017

38-44

1 reference

17 August 2017

1

1 reference

Protein measurement with the Folin phenol reagent

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

Recent advances in molecular pathology. Isotopic analysis of metabolic systems. I.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

The metabolism of cholestanol, cholesterol, and bile acids in cerebrotendinous xanthomatosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

Identification of pentahydroxy bile alcohols in cerebrotendinous xanthomatosis: characterization of 5beta-cholestane-3alpha, 7alpha, 12alpha, 24xi, 25-pentol and 5beta-cholestane-3alpha, 7alpha, 12alpha, 23xi, 25-pentol

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

Biosynthesis of bile acids in man. Hydroxylation of the C27-steroid side chain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

Inborn errors of bile acid synthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

A 25-hydroxylation pathway of cholic acid biosynthesis in man and rat

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

Cholic acid biosynthesis: conversion of 5beta-cholestane-3alpha,7alpha,12alpha,25-tetrol into 5beta-cholestane-3alpha,7alpha, 12alpha,24beta,25-pentol by human and rat liver microsomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371915

Hereditary metabolic diseases-general considerations

27 June 2018

1 reference

12 December 2020

Omega-hydroxylation of steriod side-chain in biosynthesis of bile acids

1 reference

12 December 2020

On the conversion of cholesterol to 7-alpha,12-alpha-dihydroxycholest-4-en-3-one. Bile acids and steroids 168

1 reference

12 December 2020

Synthesis of 5beta-cholestane-3alpha, 7alpha, 12alpha, 25-tetrol and 5beta-cholestane-3alpha, 7alpha, 245, 25-pentol

1 reference

12 December 2020

The formation of bile acids from cholesterol. The conversion of 5-beta-cholestane-3-alpha,7-alpha-triol-26-oic acid to cholic acid via 5-beta-cholestane-3-alpha,7-alpha,12-alpha, 24-xi-tetraol-26-oic acid I by rat liver

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI109275

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

PMCID

371915