(Q73048430)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterol (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

Smith-Lemli-Opitz syndrome

31 October 2019

main subject

1 reference

C M Chambers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

M P McLean

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

G C Ness

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

publication date

1 January 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

31 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

322-327

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

Post-transcriptional regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase by 3 beta-hydroxy-lanost-8-en-32-al, an intermediate in the conversion of lanosterol to cholesterol

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Abnormal bile acids in the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Loss of NADPH during assays of HMG-CoA reductase: implications and approaches to minimize errors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Regulation of 3-Hydroxy-3-methylglutaryl Coenzyme A Reductase Gene Expression by Sterols and Nonsterols in Rat Liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Inhibitors of Cholesterol Biosynthesis Increase Hepatic Low-Density Lipoprotein Receptor Protein Degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Oxylanosterols as modifiers of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C322%3A%3AAID-AJMG14%3E3.0.CO%3B2-V

10.1002/(SICI)1096-8628(19970131)68:3<322::AID-AJMG14>3.0.CO;2-V

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024567%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference