(Q35258252)

7 August 2017

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title

Disorders of cholesterol biosynthesis (English)

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7 August 2017

Clayton PT

1

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7 August 2017

language of work or name

English

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publication date

1 February 1998

1 reference

Archives of Disease in Childhood

7 August 2017

published in

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7 August 2017

volume

78

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7 August 2017

issue

2

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7 August 2017

page(s)

185-189

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Cardiovascular malformations in Smith-Lemli-Opitz syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Cholesterol modification of hedgehog signaling proteins in animal development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Compartmentalization of cholesterol biosynthesis. Conversion of mevalonate to farnesyl diphosphate occurs in the peroxisomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Effect of Serum Lipoproteins on Growth and Sterol Synthesis in Cultured Rat Brain Glial Cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Placental transfer of cholesterol into the human fetus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717457

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

26 September 2018

1 reference

12 December 2020

Cholesterol prevents the teratogenic action of AY 9944: importance of the timing of cholesterol supplementation to rats

1 reference

12 December 2020

Lipid synthesis by rat brain microvessel endothelial cells in tissue culture

1 reference

12 December 2020

Prenatal diagnosis of Smith-Lemli-Optiz syndrome

1 reference

12 December 2020

Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

1 reference

12 December 2020

Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Desmosterolosis: a new inborn error of cholesterol biosynthesis

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome: treatment with cholesterol and bile acids

1 reference

12 December 2020

A new face for an old syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

New treatment strategy for Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Effect of bilayer cholesterol content on reconstituted human erythrocyte sugar transporter activity

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.78.2.185

1 reference

7 August 2017

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7 August 2017

1 reference