Research & Literature

Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.

Cefalù AB, Norata GD, Ghiglioni DG, et al.

Atherosclerosis 2015; (239(1)):209-17.

Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.

Kawashiri MA, Tada H, Hashimoto M, et al.

JIMD reports 2015; (22()):85-94 doi:10.1007/8904_2015_415.

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.

Di Leo E, Eminoglu T, Magnolo L, et al.

Journal of clinical lipidology 2015; (9(3)):400-5.

Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.

Burnett JR, Hooper AJ

Free radical biology & medicine 2015; (88(Pt A)):59-62.

Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.

Hooper AJ, Heeks L, Robertson K, et al.

The Journal of clinical endocrinology and metabolism 2015; (100(11)):E1484-90 doi:10.1210/jc.2015-2731.

Update on the molecular biology of dyslipidemias.

Ramasamy I

Clinica chimica acta; international journal of clinical chemistry 2016; (454()):143-85.

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

Yilmaz BS, Mungan NO, Di Leo E, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (452()):185-90.

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.

Rimbert A, Pichelin M, Lecointe S, et al.

Atherosclerosis 2016; (250()):52-6.

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.

Di Costanzo A, Di Leo E, Noto D, et al.

Journal of clinical lipidology 2017; (11(5)):1234-1242 doi:10.1016/j.jacl.2017.06.013.

Abnormalities of Lipoprotein Levels in Liver Cirrhosis: Clinical Relevance.

Privitera G, Spadaro L, Marchisello S, et al.

Digestive diseases and sciences 2018; (63(1)):16-26 doi:10.1007/s10620-017-4862-x.

Complex genetic architecture in severe hypobetalipoproteinemia.

Wang LR, McIntyre AD, Hegele RA

Lipids in health and disease 2018; (17(1)):48 doi:10.1186/s12944-018-0680-1.

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 F, Martin-Campos JM, Beteta-Vicente Á, et al.

Atherosclerosis 2019; (283()):52-60 doi:10.1016/j.atherosclerosis.2019.01.036.

Extremely low levels of low-density lipoprotein potentially suggestive of familial hypobetalipoproteinemia: A separate phenotype of NAFLD?

Mouzaki M, Shah A, Arce-Clachar AC, et al.

Journal of clinical lipidology 2019; (13(3)):425-431 doi:10.1016/j.jacl.2019.02.002.

Novel mutations of SAR1B gene in four children with chylomicron retention disease.

Simone ML, Rabacchi C, Kuloglu Z, et al.

Journal of clinical lipidology 2019; (13(4)):554-562 doi:10.1016/j.jacl.2019.05.013.

Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.

Welty FK

Current opinion in lipidology 2020; (31(2)):49-55 doi:10.1097/MOL.0000000000000663.

A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia.

Musialik J, Boguszewska-Chachulska A, Pojda-Wilczek D, et al.

International journal of molecular sciences 2020; (21(4)) doi:10.3390/ijms21041439.

Hypolipidemia is associated with the severity of COVID-19.

Wei X, Zeng W, Su J, et al.

Journal of clinical lipidology 2020; (14(3)):297-304 doi:10.1016/j.jacl.2020.04.008.

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.

Rimbert A, Vanhoye X, Coulibaly D, et al.

Arteriosclerosis, thrombosis, and vascular biology 2021; (41(1)):e63-e71 doi:10.1161/ATVBAHA.120.315491.

Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia - A Case Study.

Cloos AS, Daenen LGM, Maja M, et al.

Frontiers in physiology 2021; (12()):638027 doi:10.3389/fphys.2021.638027.

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?

Sissaoui S, Cochet M, Poinsot P, et al.

Journal of pediatric gastroenterology and nutrition 2021; (73(1)):4-8 doi:10.1097/MPG.0000000000003145.

Low-density lipoprotein cholesterol levels are associated with poor clinical outcomes in COVID-19.

Aparisi Á, Iglesias-Echeverría C, Ybarra-Falcón C, et al.

Nutrition, metabolism, and cardiovascular diseases : NMCD 2021; (31(9)):2619-2627 doi:10.1016/j.numecd.2021.06.016.

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.

Vanhoye X, Janin A, Caillaud A, et al.

International journal of molecular sciences 2022; (23(8)) doi:10.3390/ijms23084281.

Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.

Cefalù AB, Spina R, Noto D, et al.

Journal of clinical lipidology 2022; (16(4)):530-537 doi:10.1016/j.jacl.2022.04.009.

AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.

Long MT, Noureddin M, Lim JK

Gastroenterology 2022; (163(3)):764-774.e1 doi:10.1053/j.gastro.2022.06.023.

Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia.

Sasaki K, Tada H, Kawashiri MA, Ito T

Frontiers in cardiovascular medicine 2022; (9()):942772 doi:10.3389/fcvm.2022.942772.

The evaluation of serum lipid profile in chronic Hepatitis B patients at a Tertiary Care Centre in Western India: A cross-sectional study.

Meena DS, Kumar D, Garg MK, et al.

Annals of African medicine 2022; (21(4)):316-321 doi:10.4103/aam.aam_35_21.

PCSK9 inhibitor, ezetimibe, and bempedoic acid: Evidence-based therapies for statin-intolerant patients.

Gunta SP, O'Keefe JH, O'Keefe EL, Lavie CJ

Progress in cardiovascular diseases 2023; (79()):12-18 doi:10.1016/j.pcad.2023.02.007.

Vitamin E-induced coagulopathy in a young patient: a case report.

Abrol R, Kaushik R, Goel D, et al.

Journal of medical case reports 2023; (17(1)):107 doi:10.1186/s13256-023-03827-y.

Multidisciplinary intensive lifestyle intervention improves markers of nonalcoholic fatty liver disease (NAFLD) in patients with type 1 diabetes and obesity: a retrospective matched-cohort study.

Tomah S, Salah T, Al-Badri M, et al.

Clinical diabetes and endocrinology 2023; (9(1)):3 doi:10.1186/s40842-023-00150-9.

A case of hypocholesterolemia under study.

Camacho A, Ariza MJ, Amigó N, et al.

Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2023; (35(5)):244-247 doi:10.1016/j.arteri.2023.05.003.

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review.

Molk N, Bitenc M, Urlep D, et al.

Frontiers in medicine 2023; (10()):1106441 doi:10.3389/fmed.2023.1106441.

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Wakabayashi T, Takahashi M, Okazaki H, et al.

Journal of atherosclerosis and thrombosis 2024; (31(7)):1005-1023 doi:10.5551/jat.RV22018.

Hypolipidemia due to Familial Hypobetalipoproteinemia in Adolescents.

Sasidharan Pillai S, Fredette ME, Quintos JB, Topor LS

AACE clinical case reports 2024; (10(4)):132-135 doi:10.1016/j.aace.2024.03.008.

Clinical and biochemical spectrum of APOB-related hypobetalipoproteinemia: Insights from a retrospective cohort study.

Sürücü Kara İ, Köse E, Mutlu H, et al.

Journal of clinical lipidology 2025; (19(3)):605-616 doi:10.1016/j.jacl.2025.02.003.

Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.

Lou TW, Ren TY, Fan JG

Journal of clinical and translational hepatology 2025; (13(12)):1080-1091 doi:10.14218/JCTH.2025.00360.

Low Cholesterol due to APOB Variants: Exploring the Balance Between Liver and Cardiovascular Risk.

Di Costanzo A, Pirona I, Buonaiuto S, et al.

Liver international : official journal of the International Association for the Study of the Liver 2026; (46(2)):e70515 doi:10.1111/liv.70515.

Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.

Loberman Nachum N, Shteyer E, Cohen H, et al.

Frontiers in medicine 2026; (13()):1720731 doi:10.3389/fmed.2026.1720731.

Vitamin K1 as a screening marker to facilitate the genetic diagnosis of class I familial hypobetalipoproteinemia: A prospective cohort study with a systematic review analysis.

Tanaka M, Okazaki S, Takahashi M, et al.

Journal of clinical lipidology 2026; (20(8)):1656-1666 doi:10.1016/j.jacl.2026.06.013.