(Q37040813)

17 August 2017

Metabolic studies in familial hypercholesterolemia. Evidence for a gene-dosage effect in vivo (English)

1 reference

17 August 2017

0 references

1

Bilheimer DW

1 reference

17 August 2017

3

Grundy SM

1 reference

17 August 2017

Stone NJ

2

1 reference

PMCID

372147

17 August 2017

language of work or name

English

0 references

publication date

1 August 1979

1 reference

Journal of Clinical Investigation

17 August 2017

1 reference

17 August 2017

64

1 reference

17 August 2017

524-533

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17 August 2017

2

1 reference

The effects of unsaturated dietary fats on absorption, excretion, synthesis, and distribution of cholesterol in man

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Practical methods for plasma lipoprotein analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Familial hypercholesterolemia: genetic, biochemical and pathophysiologic considerations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Effects of polyunsaturated fats on lipid metabolism in patients with hypertriglyceridemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Genetics of the low density lipoprotein receptor. Diminished receptor activity in lymphocytes from heterozygotes with familial hypercholesterolemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Simultaneous measurement of apolipoprotein B turnover in very-low- and low-density lipoproteins in familial hypercholesterolaemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

New Insights Into Cholesterol Dynamics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

The Low-Density Lipoprotein Pathway and its Relation to Atherosclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Non-Steady-State Studies of Low-Density-Liproprotein Turnover in Familial Hypercholesterolaemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Regulation of low density lipoprotein receptor activity in freshly isolated human lymphocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Low density lipoprotein metabolism in a family of familial hypercholesterolemic patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Familial hypercholesterolemia: A genetic defect in the low-density lipoprotein receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

The metabolism of the apoprotein of plasma low density lipoprotein in familial hype rbetalipoproteinaemia in the homozygous form

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Electrophoretic separation of plasma lipoproteins in agarose gel.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Failure of complete bile diversion and oral bile acid therapy in the treatment of homozygous familial hypercholesterolemia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Comparison of patterns of fecal bile acid and neutral sterol between children and adults

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Biliary lipid secretion in hypercholesterolemia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Needed: New Therapy for Hypercholesterolemia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372147

Distribution and degradation of human serum albumin labeled with I 131 by different techniques

27 June 2018

1 reference

12 December 2020

The effect of cholestyramine on the faecal excretion of bile acids and neutral steroids in familial hypercholesterolaemia

1 reference

12 December 2020

The metabolism of low-density lipoprotein in a patient with familial hyperbetalipoproteinaemia

1 reference

12 December 2020

The formation of bile acids in patients with three types of hyperlipoproteinaemia

1 reference

12 December 2020

Mechanisms of action of clofibrate on cholesterol metabolism in patients with hyperlipidemia

1 reference

12 December 2020

Interruption of the enterohepatic circulation of bile acids in man: comparative effects of cholestyramine and ileal exclusion on cholesterol metabolism

1 reference

12 December 2020

Effects of dietary cholesterol on the regulation of total body cholesterol in man

1 reference

12 December 2020

An evaluation of four methods for measuring cholesterol absorption by the intestine in man

1 reference

12 December 2020

The interaction of cholesterol absorption and cholesterol synthesis in man

1 reference

12 December 2020

Difference in bile acid excretion. Primary hypercholesteremia compared to combined hypercholesteremia and hypertriglyceridemia

1 reference

12 December 2020

Measurements of cholesterol turnover, synthesis, and absorption in man, carried out by isotope kinetic and sterol balance methods

1 reference

12 December 2020

Low Excretion of Fecal Bile Acids in a Family with Hypercholesterolemia

1 reference

12 December 2020

Studies in the metabolism of cholesterol in subjects with normal plasma cholesterol levels and in patients with essential hypercholesterolaemia

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI109490

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

PMCID

372147