Literature DB >> 4362800

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

J L Goldstein, M J Harrod, M S Brown.   

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Year:  1974        PMID： 4362800      PMCID： PMC1762661     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  11 in total

1.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

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

Authors:  A K Khachadurian; S M Uthman
Journal:  Nutr Metab       Date:  1973       Impact factor: 4.169

3.  Regulation of cholesterol synthesis in normal and malignant tissue.

Authors:  M S Brown; J L Goldstein; M D Siperstein
Journal:  Fed Proc       Date:  1973-12

4.  Role of amniocentesis in the intrauterine detection of genetic disorders.

Authors:  H L Nadler; A B Gerbie
Journal:  N Engl J Med       Date:  1970-03-12       Impact factor: 91.245

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

Authors:  H G Schrott; J L Goldstein; W R Hazzard; M M McGoodwin; A G Motulsky
Journal:  Ann Intern Med       Date:  1972-05       Impact factor: 25.391

6.  3-Hydroxy-3-methylglutaryl coenzyme A reductase. Solubilization and purification of a cold-sensitive microsomal enzyme.

Authors:  M S Brown; S E Dana; J M Dietschy; M D Siperstein
Journal:  J Biol Chem       Date:  1973-07-10       Impact factor: 5.157

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

Authors:  J L Goldstein; H G Schrott; W R Hazzard; E L Bierman; A G Motulsky
Journal:  J Clin Invest       Date:  1973-07       Impact factor: 14.808

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

Authors:  J L Goldstein; M S Brown
Journal:  Proc Natl Acad Sci U S A       Date:  1973-10       Impact factor: 11.205

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

Authors:  M S Brown; S E Dana; J L Goldstein
Journal:  Proc Natl Acad Sci U S A       Date:  1973-07       Impact factor: 11.205

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

Authors:  N C Nevin; J Slack
Journal:  J Med Genet       Date:  1968-03       Impact factor: 6.318
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  6 in total

1.  Editorial: Early prevention of atherosclerosis.

Authors:  J P Kane; M J Malloy
Journal:  West J Med       Date:  1975-04

2.  Lipoprotein receptors and genetic control of cholesterol metabolism in cultured human cells.

Authors:  M S Brown; J L Goldstein
Journal:  Naturwissenschaften       Date:  1975-08

3.  Role of the low density lipoprotein receptor in regulating the content of free and esterified cholesterol in human fibroblasts.

Authors:  M S Brown; J R Faust; J L Goldstein
Journal:  J Clin Invest       Date:  1975-04       Impact factor: 14.808

4.  Analysis of genetic and environmental sources of variation in serum cholesterol in Tecumseh, Michigan. I. Analysis of the frequency distribution for evidence of a genetic polymorphism.

Authors:  C F Sing; M A Chamberlain; W D Block; S Feiler
Journal:  Am J Hum Genet       Date:  1975-05       Impact factor: 11.025

5.  Esterification of low density lipoprotein cholesterol in human fibroblasts and its absence in homozygous familial hypercholesterolemia.

Authors:  J L Goldstein; S E Dana; M S Brown
Journal:  Proc Natl Acad Sci U S A       Date:  1974-11       Impact factor: 11.205

Review 6.  Balloon Angioplasty - The Legacy of Andreas Grüntzig, M.D. (1939-1985).

Authors:  Matthias Barton; Johannes Grüntzig; Marc Husmann; Josef Rösch
Journal:  Front Cardiovasc Med       Date:  2014-12-29
  6 in total

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