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Familial Hypercholesterolemia: A Genetic Receptor Disease

 

作者: GoldsteinJoseph L.,   BrownMichael S.,  

 

期刊: Hospital Practice  (Taylor Available online 1985)
卷期: Volume 20, issue 11  

页码: 35-46

 

ISSN:2154-8331

 

年代: 1985

 

DOI:10.1080/21548331.1985.11703185

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

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.

 

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