Research & Literature

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.

A Male Infant with Abetalipoproteinemia: A Case Report from Iran.

Rashtian P, Najafi Sani M, Jalilian R

Middle East journal of digestive diseases 2015; (7()):181-4.

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.

Lipid transfer proteins in the assembly of apoB-containing lipoproteins.

Sirwi A, Hussain MM

Journal of lipid research 2018; (59(7)):1094-1102 doi:10.1194/jlr.R083451.

Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.

Cuerq C, Henin E, Restier L, et al.

Journal of lipid research 2018; (59(9)):1640-1648 doi:10.1194/jlr.M085043.

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.

Di Filippo M, Varret M, Boehm V, et al.

Journal of clinical lipidology 2019; (13(1)):201-212 doi:10.1016/j.jacl.2018.10.003.

Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy.

Khan AO, Basamh O, Alkatan HM

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019; (23(3)):176-177 doi:10.1016/j.jaapos.2019.01.005.

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.

Di Filippo M, Collardeau Frachon S, Janin A, et al.

Atherosclerosis 2019; (284()):75-82 doi:10.1016/j.atherosclerosis.2019.02.016.

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.

The crystal structure of human microsomal triglyceride transfer protein.

Biterova EI, Isupov MN, Keegan RM, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(35)):17251-17260 doi:10.1073/pnas.1903029116.

An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia.

Sivamurukan P, Boddu D, Pulimood A, Agarwal I

Journal of pediatric hematology/oncology 2021; (43(3)):e429-e430 doi:10.1097/MPH.0000000000001831.

Microsomal Triglyceride Transfer Protein: From Lipid Metabolism to Metabolic Diseases.

Iqbal J, Jahangir Z, Al-Qarni AA

Advances in experimental medicine and biology 2020; (1276()):37-52 doi:10.1007/978-981-15-6082-8_4.

A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.

Rodríguez Gutiérrez PG, González García JR, Castillo De León YA, et al.

Journal of clinical laboratory analysis 2021; (35(3)):e23672 doi:10.1002/jcla.23672.

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.

Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.

Auclair N, Sané AT, Ahmarani L, et al.

Journal of lipid research 2021; (62()):100085 doi:10.1016/j.jlr.2021.100085.

Current Diagnosis and Management of Abetalipoproteinemia.

Takahashi M, Okazaki H, Ohashi K, et al.

Journal of atherosclerosis and thrombosis 2021; (28(10)):1009-1019 doi:10.5551/jat.RV17056.

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.

Vlasschaert C, McIntyre AD, Thomson LA, et al.

Journal of investigative medicine high impact case reports 2021; (9()):23247096211022484 doi:10.1177/23247096211022484.

Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins.

Le R, Zhao L, Hegele RA

Journal of clinical lipidology 2022; (16(2)):155-159 doi:10.1016/j.jacl.2022.02.003.

Generation of hepatoma cell lines deficient in microsomal triglyceride transfer protein.

Anaganti N, Chattopadhyay A, Poirier JT, Hussain MM

Journal of lipid research 2022; (63(9)):100257 doi:10.1016/j.jlr.2022.100257.

Guidance for the diagnosis and treatment of hypolipidemia disorders.

Bredefeld C, Hussain MM, Averna M, et al.

Journal of clinical lipidology 2022; (16(6)):797-812 doi:10.1016/j.jacl.2022.08.009.

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.

Bordat C, Vairo D, Cuerq C, et al.

Nutrients 2023; (15(3)) doi:10.3390/nu15030505.

Low cholesterol states: clinical implications and management.

Gill PK, Hegele RA

Expert review of endocrinology & metabolism 2023; (18(3)):241-253 doi:10.1080/17446651.2023.2204932.

Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years.

Cortier J, Vandamme S, Vanhauwaert D, et al.

Brain & spine 2023; (3()):101762 doi:10.1016/j.bas.2023.101762.

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.

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.

Sasaki K, Tada H, Komatsu T, et al.

Journal of atherosclerosis and thrombosis 2024; (31(11)):1634-1640 doi:10.5551/jat.64730.

High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population.

Guay SP, Paquette M, Girard L, et al.

Journal of clinical lipidology 2024; (18(4)):e625-e630 doi:10.1016/j.jacl.2024.04.132.

Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging.

Bijon J, Hussain MM, Bredefeld CL, et al.

Ophthalmic genetics 2024; (45(6)):583-590 doi:10.1080/13816810.2024.2411290.

A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.

Valmiki S, Bredefeld C, Hussain MM

Journal of lipid research 2025; (66(1)):100725 doi:10.1016/j.jlr.2024.100725.

Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.

Triantafillidis JK, Manioti A, Pittaras T, et al.

Journal of personalized medicine 2025; (15(8)) doi:10.3390/jpm15080354.

Comorbid Abetalipoproteinemia and Neurofibromatosis Type 1: Potential Clinical Implications of an Ultrarare Co-occurrence.

Womack YHM, Asif MB, Shamoun FE, et al.

Annals of internal medicine. Clinical cases 2026; (5(7)) doi:10.7326/aimcc.2026.0224.