Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1976.tb01611.x/fullpdf
Reference20 articles.
1. Cholesterol biosynthesis in the isolated perfused rat liver;Barth;Hoppe-Seylers Z. physiol. Chem.,1972
2. The labelling of proteins to high specific radioactivities by conjugation to a 125I-containing acylating agent;Bolton;Biochem. J.,1973
3. Regulation of 3-hydroxy-3-methyl-glutaryl coenzyme A reductase activity in human fibroblasts by lipoproteins;Brown;Proc. nat. Acad. Sci. (Wash.),1973
4. Regulation of 3-hydroxy-3-methyl-glutaryl coenzyme A reductase activity in cultured human fibroblasts;Brown;J. biol. Chem.,1974
5. Familial hypercholesterolemia: Defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity;Brown;Proc. nat. Acad. Sci. (Wash.),1974a
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1. Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations;Journal of Clinical Lipidology;2023-03
2. Adrenoleukodystrophy (Siemerling-Creutzfeldt disease): Heterozygote with two clonal fibroblast populations;Clinical Genetics;2008-04-23
3. Familial hypercholesterolemia in South Africa: to screen or not to screen? A national perspective;Screening;1996-05
4. Evidence for the presence of low density and very low density lipoproteins in human amniotic fluid;Biochemical and Biophysical Research Communications;1987-11
5. Genetic Dyslipoproteinemias Associated with Coronary Atherosclerosis;The Genetics of Cardiovascular Disease;1987
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