Article

MTTP gene variants and lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia

2023-11-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder of lipoprotein metabolism caused by pathogenic variants in both alleles of key low-density lipoprotein receptor (LDLR)-mediated pathway genes, resulting in very high LDL cholesterol (LDL-C) levels from birth. The microsomal triglyceride transfer protein (MTTP) inhibitor, lomitapide, is...

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Literature Corpus work: 8b5b72ce-02bc-5057-bd9d-7fc67e6fd0d7
DOI: 10.21203/rs.3.rs-3230833/v1

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