Associated Papers
Lomitapide does not alter PCSK9 and Lp(a) levels in homozygous familial hypercholesterolemia patients: Analysis on cytokines and lipid profile.
Lupo MG et al.
Atherosclerosis Plus, 2021
Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.
Hindi NN et al.
Journal of Personalized Medicine, 2021
A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.
Nikasa P et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021
Autosomal recessive hypercholesterolemia: update for 2020.
D'Erasmo L et al.
Current Opinion in Lipidology, 2020
The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.
Fellin R et al.
Gene, 2015
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
Futema M et al.
Journal of Medical Genetics, 2012
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Calandra S et al.
Journal of Lipid Research, 2011
Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene.
Quagliarini F et al.
Molecular Genetics and Metabolism, 2007
Mechanisms of disease: genetic causes of familial hypercholesterolemia.
Soutar AK et al.
Nature Clinical Practice. Cardiovascular Medicine, 2007
Autosomal recessive hypercholesterolemia.
Soutar AK et al.
Seminars in Vascular Medicine, 2004
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene.
Barbagallo CM et al.
Atherosclerosis, 2003
Pharmacological treatment of a Sardinian patient affected by Autosomal Recessive Hypercholesterolemia (ARH).
Muntoni S et al.
Journal of Clinical Lipidology, 0
Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.
Spina R et al.
Journal of Clinical Lipidology, 0