Familial hypercholesterolemia: A genetic receptor disease

J. L. Goldstein; M. S. Brown

doi:10.1080/21548331.1985.11703185

Familial hypercholesterolemia: A genetic receptor disease

J. L. Goldstein, M. S. Brown

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

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 language	English (US)
Pages (from-to)	35-46
Number of pages	12
Journal	Hospital Practice
Volume	20
Issue number	11
DOIs	https://doi.org/10.1080/21548331.1985.11703185
State	Published - 1985

ASJC Scopus subject areas

Medicine(all)

Access to Document

10.1080/21548331.1985.11703185

Fingerprint Dive into the research topics of 'Familial hypercholesterolemia: A genetic receptor disease'. Together they form a unique fingerprint.

Cite this

@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",

doi = "10.1080/21548331.1985.11703185",

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

U2 - 10.1080/21548331.1985.11703185

DO - 10.1080/21548331.1985.11703185

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 -