(Q71587098)

English

Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome

scientific article published on 01 January 1996

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Smith-Lemli-Opitz syndrome

1 reference

based on heuristic

inferred from title

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

E Lund

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

L Starck

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

publication date

1 January 1996

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

19

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

59-64

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanism of enzymatic reduction of steroid double bonds

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Teratogenic action in the rat of an inhibitor of cholesterol synthesis, AY 9944]

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On the mechanism of oxidation of cholesterol at C-7 in a lipoxygenase system

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol metabolism in the RSH/Smith‐Lemli‐Opitz syndrome: Summary of an NICHD conference

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol prevents the teratogenic action of AY 9944: importance of the timing of cholesterol supplementation to rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/8830178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01799349

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q71587098&oldid=2219229027"