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2. The biochemistry of familial hypercholesterolaemia. Myant NB Biochem Soc Trans; 1976; 4(4):580-4. PubMed ID: 187482 [No Abstract] [Full Text] [Related]
3. Expression of the familial hypercholesterolemia gene in heterozygotes: model for a dominant disorder in man. Goldstein JL; Brown MS Trans Assoc Am Physicians; 1974; 87():120-31. PubMed ID: 4376290 [No Abstract] [Full Text] [Related]
4. [Homozygote familial hypercholesterinemia. Pathophysiology and genetic control of cholesterol metabolism]. Gaertner U Med Klin; 1978 Jun; 73(23):849-54. PubMed ID: 207958 [No Abstract] [Full Text] [Related]
5. Cholesterol synthesis and uptake by fat cells in familial hypercholesterolemia. Kovanen PT; Nikkilä EA Adv Exp Med Biol; 1977; 82():286-9. PubMed ID: 200097 [No Abstract] [Full Text] [Related]
6. Reversible abnormalities of low density lipoprotein composition in familial hypercholesterolaemia. Jadhav AV; Thompson GR Eur J Clin Invest; 1979 Feb; 9(1):63-7. PubMed ID: 222593 [TBL] [Abstract][Full Text] [Related]
7. Familial hypercholesterolemia: unraveling a genetic receptor disease. Brown MS; Goldstein JL Trans Assoc Am Physicians; 1977; 90():91-108. PubMed ID: 205984 [No Abstract] [Full Text] [Related]
8. 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. Goldstein JL; Brown MS J Biol Chem; 1974 Aug; 249(16):5153-62. PubMed ID: 4368448 [No Abstract] [Full Text] [Related]
9. Familial hypercholesterolemia: A genetic defect in the low-density lipoprotein receptor. Brown MS; Goldstein JL N Engl J Med; 1976 Jun; 294(25):1386-90. PubMed ID: 177875 [No Abstract] [Full Text] [Related]
10. Interaction between high density and low density lipoproteins uptake and degradation by cultured human fibroblasts. Miller NE; Weinstein DB; Carew TE; Koschinsky T; Steinberg D J Clin Invest; 1977 Jul; 60(1):78-88. PubMed ID: 194923 [TBL] [Abstract][Full Text] [Related]
12. Human mutations affecting the low density lipoprotein pathway. Brown MS; Goldstein JL Am J Clin Nutr; 1977 Jun; 30(6):975-8. PubMed ID: 194472 [No Abstract] [Full Text] [Related]
13. Metabolic studies in familial hypercholesterolemia. Evidence for a gene-dosage effect in vivo. Bilheimer DW; Stone NJ; Grundy SM J Clin Invest; 1979 Aug; 64(2):524-33. PubMed ID: 222811 [TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of homoxygous familial hypercholesterolemia: investigation of a case at risk. Wienker TF; Utermann G; Ropers HH Clin Genet; 1976 Jun; 9(6):545-52. PubMed ID: 179742 [TBL] [Abstract][Full Text] [Related]
15. Lipoprotein receptors and genetic control of cholesterol metabolism in cultured human cells. Brown MS; Goldstein JL Naturwissenschaften; 1975 Aug; 62(8):385-9. PubMed ID: 172803 [TBL] [Abstract][Full Text] [Related]
16. Use of fibroblast culture to diagnose and genotype familial hypercholesterolaemia. Spengel FA; Harders-Spengel KM; Keller CF; Wieczorek A; Wolfram G; Zöllner N Ann Nutr Metab; 1982; 26(4):240-7. PubMed ID: 7137946 [No Abstract] [Full Text] [Related]
17. Familial hypercholesterolemia. A genetic regulatory defect in cholesterol metabolism. Goldstein JL; Brown MS Am J Med; 1975 Feb; 58(2):147-50. PubMed ID: 163579 [No Abstract] [Full Text] [Related]
18. Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man. Brown MS; Goldstein JL Science; 1974 Jul; 185(4145):61-3. PubMed ID: 4366052 [TBL] [Abstract][Full Text] [Related]
19. The metabolic lesion in familial hypercholesterolaemia. Myant NB Expos Annu Biochim Med; 1977; 33():39-52. PubMed ID: 196909 [No Abstract] [Full Text] [Related]
20. Human mutations affecting the low density lipoprotein pathway. Brown MS; Goldstein JL Curr Concepts Nutr; 1979; 8():173-8. PubMed ID: 230940 [No Abstract] [Full Text] [Related] [Next] [New Search]