Familial Hypobetalipoproteinemia
What's New
Last Posted: Sep 21, 2024
- Do genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration?
Antonina Giammanco, et al. Nutrition, metabolism, and cardiovascular diseases : NMCD 2024 0 - Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.
Di Costanzo Alessia, et al. Journal of clinical lipidology 2017 0 (5) 1234-1242 - Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
Blanco-Vaca Francisco, et al. Atherosclerosis 2019 0 52-60 - Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ?2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages.
Ikeda Masaki, et al. Neurogenetics 2021 0 (1) 69-71 - Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile.
Rimbert Antoine, et al. Arteriosclerosis, thrombosis, and vascular biology 2022 10 (10) 1262-1271 - Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens M T, et al. Nature communications 2019 10 (1) 4897 - Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.
Peloso Gina M, et al. Circulation. Genomic and precision medicine 2019 4 - Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.
Miller Sharon A, et al. Journal of clinical lipidology 0 0 (3) 604-9 - Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
Rimbert Antoine, et al. Atherosclerosis 2016 4 52-56 - Familial hypobetalipoproteinemia
From NCATS Genetic and Rare Diseases Information Center
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: