A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency (Q72689608)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

main subject

intrahepatic cholestasis

1 reference

E Jacquemin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

K D Setchell

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

N C O'Connell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A Estrada

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

G Maggiore

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

J Schmitz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M Hadchouel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

O Bernard

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 September 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

125

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

379-384

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Byler's disease: fatal intrahepatic cholestasis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Normal serum gamma-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Orthotopic liver transplantation for Byler disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Familial intrahepatic cholestatic syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Diagnostic Value of Serum γ-Glutamyl Transpeptidase Activity in Liver Diseases in Children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Progressive familial cholestatic cirrhosis and bile acid metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Bile acid profiles in siblings with progressive intrahepatic cholestasis: absence of biliary chenodeoxycholate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

7 January 2021

Bile acid biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Mechanisms and regulation of bile secretion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

A rapid method for the quantitative extraction of bile acids and their conjugates from serum using commercially available reverse-phase octadecylsilane bonded silica cartridges

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Inborn errors of bile acid synthesis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

7 January 2021

Serum bile acid analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Bile acid profiles of human serum and skin interstitial fluid and their relationship to pruritus studied by gas chromatography-mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

The characteristics of mixed micellar solutions with particular reference to bile

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Studies on the substrate specificity of a carboxyl ester hydrolase from human pancreatic juice. II. Action on cholesterol esters and lipid-soluble vitamin esters

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Mechanism of Biliary Secretion of Membranous Enzymes: Bile Acids Are Important Factors for Biliary Occurrence of γ-Glutamyltransferease and Other Hydrolases1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Tight junctions in normal and cholestatic liver: does the paracellular pathway have functional significance?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Regulation of bile acid synthesis. II. Effect of bile acid feeding on enzymes regulating hepatic cholesterol and bile acid synthesis in the rat

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Ursodeoxycholic acid improves ethinyl estradiol-induced cholestasis in the rat.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2983280-9

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(05)83280-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7915305%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference