Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels.

Estimation of the Concentration of Low-Density Lipoprotein Cholesterol in Plasma, Without Use of the Preparative Ultracentrifuge

1972 • 31,801 citations

A Receptor-Mediated Pathway for Cholesterol Homeostasis

1986 • 5,638 citations

Triglycerides Determination after Enzymatic Hydrolysis

1974 • 827 citations

Cholesterol in high-density lipoprotein: use of Mg2+/dextran sulfate in its enzymic measurement.

1978 • 423 citations

Deletion in the Gene for the Low-Density-Lipoprotein Receptor in a Majority of French Canadians with Familial Hypercholesterolemia

1987 • 300 citations

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

1987 • 282 citations

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.

1989 • 204 citations

Familial Hypercholesterolemia (One Form of Familial Type II Hyperlipoproteinemia) A STUDY OF ITS BIOCHEMICAL, GENETIC, AND CLINICAL PRESENTATION IN CHILDHOOD

1974 • 189 citations

Multicentre Study of a New Enzymatic Method of Cholesterol Determination

1984 • 154 citations

Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.

1989 • 141 citations

Heterozygous familial hypercholesterolemia

1979 • 128 citations

Detection of Familial Hypercholesterolemia by Assaying Functional Low-Density-Lipoprotein Receptors on Lymphocytes

1986 • 109 citations

Discrimination of familial hypercholesterolemia and secondary hypercholesterolemia by achilles' tendon thickness

1977 • 107 citations

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.

1989 • 103 citations

Individual variation in serum cholesterol levels.

1987 • 88 citations

Serum Lipids and Lipoproteins in Children, Adolescents and Young Adults in 1980–1986

1991 • 86 citations

SERUM TOTAL AND HIGH DENSITY LIPOPROTEIN CHOLESTEROL CONCENTRATIONS AND BODY MASS INDEX IN ADULT MEN FROM 13 COUNTRIES1

1982 • 82 citations

Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaction: convenient alternative to phenotyping by isoelectric focusing

1990 • 81 citations

Molecular basis of familial hypercholesterolemia.

1989 • 78 citations

I and c/g polymorphisms of the apolipoprotein B gene locus are associated with serum cholesterol and LDL-cholesterol levels in Finland

1988 • 77 citations

Familial hypercholesterolemia and apolipoprotein E4

1988 • 73 citations

Genetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia

1989 • 54 citations

Pediatric implications of heterozygous familial hypercholesterolemia. Screening and dietary treatment.

1989 • 48 citations

Identification of a deletion in the LDL receptor gene A Finnish type of mutation

1988 • 45 citations

Apolipoprotein E polymorphism association with lipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolemia.

1991 • 44 citations

Apolipoprotein E phenotype and cholesterol metabolism in familial hypercholesterolemia

1989 • 33 citations