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Article

[Congenital disorders of lipoprotein metabolism].

Herz - 1 Aug 2017

März W, Grammer T B, Delgado G, Kleber M E

Abstract excerpt

Congenital disorders of lipid metabolism are caused by a wide range of variants of the genes for receptors, apolipoproteins, enzymes, transfer factors, and cellular cholesterol transporters. Clinically most relevant are autosomal dominant familial hypercholesterolemia (FH) and familial combined hyperlipoproteinemia (FCHL). FH has a prevalence of 1:250. It is due to mutations of the low density lipoprotein (LDL)...

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Topics

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Share to Apolipoproteins B
Share to Atherosclerosis
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Hyperlipoproteinemia Type II

Share to Lipoproteins

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Identifiers

PMID: 28555288
DOI: 10.1007/s00059-017-4578-x

Genes

APOB
PCSK9
LDLR
STAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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