Familial hypercholesterolemia: A genetic receptor disease

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

We now understand the biochemical basis of this disorder, which affects one person in 500 in the United States. It is inherited as an autosomal dominant or quasi-dominant trait, with phenotypic effects expressed in heterozygotes as well as in homozygotes. Diagnosis is possible at birth, but effective treatment is thus far available only for the heterozygous form.

Original languageEnglish (US)
Pages (from-to)35-46
Number of pages12
JournalHospital Practice
Volume20
Issue number11
StatePublished - 1985

Fingerprint

Inborn Genetic Diseases
Hyperlipoproteinemia Type II
Homozygote
Heterozygote
Parturition

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Familial hypercholesterolemia : A genetic receptor disease. / Goldstein, J. L.; Brown, M. S.

In: Hospital Practice, Vol. 20, No. 11, 1985, p. 35-46.

Research output: Contribution to journalArticle

@article{56c334966c4a4f8fb0302fce8389b203,
title = "Familial hypercholesterolemia: A genetic receptor disease",
abstract = "We now understand the biochemical basis of this disorder, which affects one person in 500 in the United States. It is inherited as an autosomal dominant or quasi-dominant trait, with phenotypic effects expressed in heterozygotes as well as in homozygotes. Diagnosis is possible at birth, but effective treatment is thus far available only for the heterozygous form.",
author = "Goldstein, {J. L.} and Brown, {M. S.}",
year = "1985",
language = "English (US)",
volume = "20",
pages = "35--46",
journal = "Hospital practice (1995)",
issn = "2154-8331",
publisher = "Taylor and Francis Ltd.",
number = "11",

}

TY - JOUR

T1 - Familial hypercholesterolemia

T2 - A genetic receptor disease

AU - Goldstein, J. L.

AU - Brown, M. S.

PY - 1985

Y1 - 1985

N2 - We now understand the biochemical basis of this disorder, which affects one person in 500 in the United States. It is inherited as an autosomal dominant or quasi-dominant trait, with phenotypic effects expressed in heterozygotes as well as in homozygotes. Diagnosis is possible at birth, but effective treatment is thus far available only for the heterozygous form.

AB - We now understand the biochemical basis of this disorder, which affects one person in 500 in the United States. It is inherited as an autosomal dominant or quasi-dominant trait, with phenotypic effects expressed in heterozygotes as well as in homozygotes. Diagnosis is possible at birth, but effective treatment is thus far available only for the heterozygous form.

UR - http://www.scopus.com/inward/record.url?scp=0022355074&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022355074&partnerID=8YFLogxK

M3 - Article

C2 - 3932389

AN - SCOPUS:0022355074

VL - 20

SP - 35

EP - 46

JO - Hospital practice (1995)

JF - Hospital practice (1995)

SN - 2154-8331

IS - 11

ER -