Inherited hypercholesterolemias are common disorders characterised by elevated LDL-C levels and premature coronary heart disease. We have recently described a recessive form of hypercholesterolemia (autosomal recessive hypercholesterolemia, ARH) in which LDL catabolism is reduced because of a mutation in the gene coding for an adaptor protein that impairs LDL-receptor (LDL-R) activity in the liver. The aim of this study was to characterise in detail the phenotypes of subjects with homozygous and heterozygous ARH.
Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH) / R. Fellin, G. Zuliani, M. Arca, P. Pintus, A. Pacifico, A. Montali, A. Corsini, M. Maioli. - In: NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES. - ISSN 0939-4753. - 13:5(2003 Oct), pp. 278-286.
Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH)
A. CorsiniPenultimo
;
2003
Abstract
Inherited hypercholesterolemias are common disorders characterised by elevated LDL-C levels and premature coronary heart disease. We have recently described a recessive form of hypercholesterolemia (autosomal recessive hypercholesterolemia, ARH) in which LDL catabolism is reduced because of a mutation in the gene coding for an adaptor protein that impairs LDL-receptor (LDL-R) activity in the liver. The aim of this study was to characterise in detail the phenotypes of subjects with homozygous and heterozygous ARH.
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