(Q56087796)

English

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

scientific article published on 01 July 1997

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scholarly article

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4 November 2019

Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts (English)

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4 November 2019

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4 November 2019

Michael F. Holick

9

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4 November 2019

author name string

S Shefer

1

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4 November 2019

G Salen

2

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4 November 2019

A Honda

3

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4 November 2019

A Batta

4

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4 November 2019

S Hauser

5

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4 November 2019

G S Tint

6

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4 November 2019

M Honda

7

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4 November 2019

L B Nguyen

10

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4 November 2019

publication date

1 July 1997

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4 November 2019

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4 November 2019

46

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4 November 2019

7

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4 November 2019

844-850

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4 November 2019

Cholesterol-mediated regulation of HMG-CoA reductase in microsomes from human skin fibroblasts and rat liver

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

Different feedback regulation of hepatic cholesterol and bile acid synthesis by glycodeoxycholic acid in rabbits

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

Regulation of the mevalonate pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

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://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

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://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM

1 reference

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7 January 2021

19 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

1 reference

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7 January 2021

The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis

1 reference

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7 January 2021

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://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0026-0495%2897%2990133-5

7 January 2021

Why is low blood cholesterol associated with risk of nonatherosclerotic disease death?

1 reference

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7 January 2021

Serum cholesterol level and mortality due to suicide and trauma in the Honolulu Heart Program

1 reference

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7 January 2021

Regulation of cutaneous previtamin D3 photosynthesis in man: skin pigment is not an essential regulator

1 reference

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7 January 2021

Identifiers

10.1016/S0026-0495(97)90133-5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9225842%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9225842%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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