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Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2018, Volume 71, Issue 3, pp. 279 - 288
BACKGROUND Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD).... 
autosomal recessive hypercholesterolemia | retrospective analysis | follow-up | atherosclerotic cardiovascular disease | lipid-lowering therapies | CARDIAC & CARDIOVASCULAR SYSTEMS | CHOLESTEROL | EFFICACY | PHENOTYPE | LIPID-LOWERING THERAPY | HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA | ARH | LOMITAPIDE | MUTATIONS | ADAPTER PROTEIN | Hypercholesterolemia - blood | Follow-Up Studies | Humans | Middle Aged | Child, Preschool | Male | Treatment Outcome | Young Adult | Time Factors | Adolescent | Hypercholesterolemia - diagnosis | Cardiovascular Diseases - blood | Cardiovascular Diseases - epidemiology | Adult | Cholesterol, LDL - blood | Female | Aged | Retrospective Studies | Child | Longitudinal Studies | Cardiovascular Diseases - diagnosis | Cohort Studies | Hypercholesterolemia - epidemiology | Heart | Plasma | Lipoproteins (low density) | Identification methods | Physicians | Angioplasty | Apheresis | Medical services | Values | Stenosis | Lipids | Cardiovascular disease | Family medical history | Males | Proteins | Atherosclerosis | Aorta | Diagnosis | Heart diseases | Medical personnel | Stroke | Genetic disorders | Coronary artery | Angina pectoris | Coronary artery disease | Disease control | Patients | Low density lipoprotein | Cholesterol | Studies | Hypercholesterolemia | Medical prognosis | Arteriosclerosis | Cardiovascular diseases | Females | Aortic valve
Journal Article
Journal Article
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 12/2016, Volume 9, Issue 6, pp. 504 - 510
Journal Article
Journal Article
Current Atherosclerosis Reports, ISSN 1523-3804, 2/2015, Volume 17, Issue 2, pp. 1 - 8
Journal Article
Atherosclerosis, ISSN 0021-9150, 02/2018, Volume 269, pp. 1 - 5
Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 ( ). It is characterized by high... 
LDLRAP1 | Autosomal recessive hypercholesterolemia | Familial hypercholesterolemia | CARDIAC & CARDIOVASCULAR SYSTEMS | GENETIC-ANALYSIS | PROTEIN | HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA | ARH | PHENOTYPE | PERIPHERAL VASCULAR DISEASE | MUTATIONS
Journal Article
Journal Article
Current Opinion in Cardiology, ISSN 0268-4705, 02/2017, Volume 32, Issue 3, pp. 262 - 266
Journal Article
Journal of Clinical Lipidology, ISSN 1933-2874, 11/2019, Volume 13, Issue 6, pp. 887 - 893
Autosomal recessive hypercholesterolemia (ARH; OMIM #603813) is a very rare monogenic disorder affecting less than 1 in 1000,000 people and is characterized by... 
Premature cardiovascular disease | Genetic testing | Familial hypercholesterolemia | Autosomal recessive hypercholesterolemia
Journal Article