Research & Literature

Chylomicron retention disease: A rare cause of chronic diarrhea.

Ben Ameur S, Aloulou H, Jlidi N, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2016; (23(7)):735-7.

Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia.

Cuerq C, Restier L, Drai J, et al.

Orphanet journal of rare diseases 2016; (11(1)):114 doi:10.1186/s13023-016-0498-8.

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.

Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease.

Ferreira H, Ramos RN, Quan CF, et al.

Pediatric gastroenterology, hepatology & nutrition 2018; (21(2)):134-140 doi:10.5223/pghn.2018.21.2.134.

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.

Chylomicron retention disease: genetics, biochemistry, and clinical spectrum.

Levy E, Poinsot P, Spahis S

Current opinion in lipidology 2019; (30(2)):134-139 doi:10.1097/MOL.0000000000000578.

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.

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.

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan.

Kumar S, Nanjiani D, Tahir F, et al.

Cureus 2020; (12(3)):e7184 doi:10.7759/cureus.7184.

Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly.

Melville DB, Studer S, Schekman R

The Journal of biological chemistry 2020; (295(25)):8401-8412 doi:10.1074/jbc.RA120.012964.

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.

Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria.

Doya LJ, Mohammad L, Omran R, et al.

BMC pediatrics 2021; (21(1)):449 doi:10.1186/s12887-021-02897-5.

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.

Chylomicron Retention Disease: Failure to Thrive and Abdominal Distention in an Infant.

Nayak K, Fuentebella J

JPGN reports 2022; (3(1)):e145 doi:10.1097/PG9.0000000000000145.

[Chylomicron retention disease caused by SAR1B gene variations in 2 cases and literatures review].

Zhang YQ, Wu LT, Cheng Y, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2024; (62(6)):565-570 doi:10.3760/cma.j.cn112140-20240301-00138.

European Consensus on Malabsorption-UEG & SIGE, LGA, SPG, SRGH, CGS, ESPCG, EAGEN, ESPEN, and ESPGHAN: Part 2: Screening, Special Populations, Nutritional Goals, Supportive Care, Primary Care Perspective.

Lenti MV, Hammer HF, Tacheci I, et al.

United European gastroenterology journal 2025; (13(5)):773-797 doi:10.1002/ueg2.70011.

Case Report: Neonatal-onset chylomicron retention disease presenting as isolated failure to thrive with compound heterozygous SAR1B variants: the value of early genetic testing and challenges of long-term management.

Liu B, Zhang C

Frontiers in pediatrics 2026; (14()):1684900 doi:10.3389/fped.2026.1684900.