(Q44169465)

English

Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome.

scientific article published in October 2002

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect 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:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

Ingemar Björkhem

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

Ingemar Björkhem

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

author name string

L Starck

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

A Lövgren-Sandblom

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

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1 October 2002

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

Journal of Internal Medicine

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

252

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Europe PubMed Central

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13 December 2019

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12366604%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

314-321

1 reference

Europe PubMed Central

PubMed publication ID

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13 December 2019

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Molecular cloning and expression of the human delta7-sterol reductase

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

The Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

The effect of hypocholesteremic agents on myelinogenesis

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Adrenal insufficiency in Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Prenatal diagnosis of Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2002.01037.X

21 January 2018

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