(Q77571089)

English

Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts

scientific article published on 01 October 1998

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Smith-Lemli-Opitz syndrome

1 reference

based on heuristic

inferred from title

author name string

M Honda

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

G S Tint

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

S Shefer

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

A Honda

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

A K Batta

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

G Xu

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

T S Chen

7

1 reference

Europe PubMed Central

PubMed publication ID

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6 December 2019

G Salen

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 October 1998

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 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:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

21

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9819706%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

7

1 reference

Europe PubMed Central

PubMed publication ID

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6 December 2019

761-768

1 reference

Europe PubMed Central

PubMed publication ID

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6 December 2019

https://scigraph.springernature.com/pub.10.1023/a:1005401317306

0 references

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

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/9819706

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/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of the last two enzymatic reactions in cholesterol biosynthesis in rats: Effects of BM 15.766, cholesterol, cholic acid, lovastatin, and their combinations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

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/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in human fibroblasts by lipoproteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of sterol structure and exogenous lipids on the transbilayer distribution of sterols in the membrane of Mycoplasma capricolum

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mevinolin and colestipol stimulate receptor-mediated clearance of low density lipoprotein from plasma in familial hypercholesterolemia heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

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/9819706

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/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid identification of smith-lemlip-opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-Δ7-reductase activity in fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9819706

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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