(Q35570305)

8 August 2017

title

Homozygous familial hypercholesterolemia: specificity of the biochemical defect in cultured cells and feasibility of prenatal detection (English)

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homozygous familial hypercholesterolemia

8 August 2017

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J L Goldstein

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8 August 2017

M J Harrod

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8 August 2017

M S Brown

series ordinal

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8 August 2017

language of work or name

English

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publication date

1 March 1974

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American Journal of Human Genetics

8 August 2017

published in

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8 August 2017

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8 August 2017

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8 August 2017

page(s)

199-206

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Protein measurement with the Folin phenol reagent

8 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=1762661

Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762661

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762661

Regulation of cholesterol synthesis in normal and malignant tissue.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762661

Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762661

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762661

Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762661

Role of amniocentesis in the intrauterine detection of genetic disorders

12 July 2018

1 reference

12 December 2020

Familial hypercholesterolemia in a large indred. Evidence for a monogenic mechanism

1 reference

12 December 2020

3-Hydroxy-3-methylglutaryl coenzyme A reductase. Solubilization and purification of a cold-sensitive microsomal enzyme

1 reference

12 December 2020

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA

1 reference

12 December 2020

Identifiers

PMC publication ID

1762661

1 reference

8 August 2017

1 reference