(Q41100907)

English

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.

scientific article published on July 1997

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266374%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266374%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Smith-Lemli-Opitz syndrome

1 reference

based on heuristic

inferred from title

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266374%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

R J Wanders

1

1 reference

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5 November 2019

G J Romeijn

2

1 reference

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5 November 2019

F Wijburg

3

1 reference

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5 November 2019

R C Hennekam

4

1 reference

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5 November 2019

J de Jong

5

1 reference

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5 November 2019

G Dacremont

7

1 reference

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5 November 2019

publication date

1 July 1997

1 reference

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5 November 2019

Journal of Inherited Metabolic Disease

1 reference

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5 November 2019

20

1 reference

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5 November 2019

432-436

1 reference

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5 November 2019

3

1 reference

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5 November 2019

https://scigraph.springernature.com/pub.10.1023/a:1005371104822

0 references

Cholesterol biosynthesis in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266374

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/9266374

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/9266374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of BM 15.766 on serum lipids in rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effects of BM 15.766, an inhibitor of 7-dehydrocholesterol delta 7-reductase, on cholesterol biosynthesis in primary rat hepatocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266374

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/9266374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266374

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005371104822

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266374%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

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5 November 2019

ResearchGate publication ID

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