C. Mansbach and S. Siddiqi, The Biogenesis of Chylomicrons, Annual Review of Physiology, vol.72, issue.1, pp.315-333, 2010.
DOI : 10.1146/annurev-physiol-021909-135801

T. Kindel, D. Lee, and P. Tso, The mechanism of the formation and secretion of chylomicrons, Atherosclerosis Supplements, vol.11, issue.1, pp.11-16, 2010.
DOI : 10.1016/j.atherosclerosissup.2010.03.003

J. Leiper, J. Bayliss, R. Pease, D. Brett, J. Scott et al., Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells, J Biol Chem, vol.269, pp.21951-21954, 1994.

D. Noto, A. Cefalu, A. Cannizzaro, M. Mina, F. Fayer et al., Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia, Atherosclerosis, vol.206, issue.1, pp.193-198, 2009.
DOI : 10.1016/j.atherosclerosis.2009.01.037

J. Wetterau, L. Aggerbeck, M. Bouma, C. Eisenberg, A. Munck et al., Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia, Science, vol.258, issue.5084, pp.999-1001, 1992.
DOI : 10.1126/science.1439810

D. Sharp, L. Blinderman, K. Combs, B. Kienzle, B. Ricci et al., Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia, Nature, vol.365, issue.6441, pp.65-69, 1993.
DOI : 10.1038/365065a0

C. Shoulders, D. Stephens, and B. Jones, The intracellular transport of chylomicrons requires the small GTPase, Sar1b, Current Opinion in Lipidology, vol.15, issue.2, pp.191-197, 2004.
DOI : 10.1097/00041433-200404000-00012

B. Jones, E. Jones, S. Bonney, H. Patel, A. Mensenkamp et al., Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders, Nature Genetics, vol.34, issue.1, pp.29-31, 2003.
DOI : 10.1038/ng1145

C. Barlowe, L. Orci, T. Yeung, M. Hosobuchi, S. Hamamoto et al., COPII: A membrane coat formed by Sec proteins that drive vesicle budding from the endoplasmic reticulum, Cell, vol.77, issue.6, pp.895-907, 1994.
DOI : 10.1016/0092-8674(94)90138-4

K. Matsuoka, L. Orci, M. Amherdt, S. Bednarek, S. Hamamoto et al., COPII-Coated Vesicle Formation Reconstituted with Purified Coat Proteins and Chemically Defined Liposomes, Cell, vol.93, issue.2, pp.263-275, 1998.
DOI : 10.1016/S0092-8674(00)81577-9

URL : http://doi.org/10.1016/s0092-8674(00)81577-9

M. Charcosset, A. Sassolas, N. Peretti, C. Roy, C. Deslandres et al., Anderson or chylomicron retention disease: Molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein, Molecular Genetics and Metabolism, vol.93, issue.1, pp.74-84, 2008.
DOI : 10.1016/j.ymgme.2007.08.120

T. Kirchhausen, Three ways to make a vesicle, Nature Reviews Molecular Cell Biology, vol.1, issue.3, pp.187-198, 2000.
DOI : 10.1038/35043117

S. Siddiqi, F. Gorelick, J. Mahan, and C. Mansbach, COPII proteins are required for Golgi fusion but not for endoplasmic reticulum budding of the pre-chylomicron transport vesicle, Journal of Cell Science, vol.116, issue.2, pp.415-427, 2003.
DOI : 10.1242/jcs.00215

S. Siddiqi, J. Mahan, S. Siddiqi, F. Gorelick, and C. Mansbach, Vesicle-associated membrane protein 7 is expressed in intestinal ER, Journal of Cell Science, vol.119, issue.5, pp.943-950, 2006.
DOI : 10.1242/jcs.02803

M. Silvain, D. Bligny, T. Aparicio, P. Laforet, A. Grodet et al., Anderson???s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities, Clinical Genetics, vol.16, issue.3, pp.546-552, 2008.
DOI : 10.1111/j.1399-0004.2008.01069.x

S. Treepongkaruna, N. Chongviriyaphan, U. Suthutvoravut, D. Charoenpipop, L. Choubtum et al., Novel Missense Mutations of SAR1B Gene in an Infant With Chylomicron Retention Disease, Journal of Pediatric Gastroenterology and Nutrition, vol.48, issue.3, pp.370-373, 2009.
DOI : 10.1097/MPG.0b013e318183188f

C. Anderson, R. Townley, . Freemanm, and P. Johansen, Unusual causes of steatorrhoea in infancy and childhood, Med J Aust, vol.48, issue.2, pp.617-622, 1961.

M. Bouma, I. Beucler, L. Aggerbeck, R. Infante, and J. Schmitz, Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease., Journal of Clinical Investigation, vol.78, issue.2, pp.398-410, 1986.
DOI : 10.1172/JCI112590

A. Dannoura, N. Berriot-varoqueaux, P. Amati, V. Abadie, N. Verthier et al., Anderson's Disease : Exclusion of Apolipoprotein and Intracellular Lipid Transport Genes, Arteriosclerosis, Thrombosis, and Vascular Biology, vol.19, issue.10, pp.2494-2508, 1999.
DOI : 10.1161/01.ATV.19.10.2494

S. Gauthier and A. Sniderman, Action tremor as a manifestation of chylomicron retention disease, Annals of Neurology, vol.64, issue.5, p.591, 1983.
DOI : 10.1002/ana.410140517

F. Lacaille, M. Bratos, M. Bouma, J. Jos, J. Schmitz et al., [Anderson's disease. Clinical and morphologic study of 7 cases], Arch Fr Pediatr, vol.46, pp.491-498, 1989.

A. Nemeth, U. Myrdal, B. Veress, M. Rudling, L. Berglund et al., Studies on lipoprotein metabolism in a family with jejunal chylomicron retention, European Journal of Clinical Investigation, vol.28, issue.4, pp.271-280, 1995.
DOI : 10.1007/BF02535122

S. Patel, M. Pessah, I. Beucler, J. Navarro, and R. Infante, Chylomicron retention disease: exclusion of apolipoprotein B gene defects and detection of mRNA editing in an affected family, Atherosclerosis, vol.108, issue.2, pp.201-207, 1994.
DOI : 10.1016/0021-9150(94)90115-5

M. Pessah, P. Benlian, I. Beucler, N. Loux, J. Schmitz et al., Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families., Journal of Clinical Investigation, vol.87, issue.1, pp.367-370, 1991.
DOI : 10.1172/JCI114996

C. Polonovski, J. Navarro, J. Fontaine, G. De, and J. Saudubray, Cathelineau L: [Anderson's disease], Ann Pediatr, vol.17, pp.342-354, 1970.

J. Rey, J. Jos, F. Rey, M. Leporrier, M. Dechaux et al., [Idiopathic disorder of intestinal fat transport (Anderson's disease). A further case], Arch Fr Pediatr, vol.30, pp.564-565, 1973.

C. Roy, E. Levy, P. Green, A. Sniderman, J. Letarte et al., Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B, Gastroenterology, vol.92, issue.2, pp.390-399, 1987.
DOI : 10.1016/0016-5085(87)90133-8

B. Scott, J. Miller, and M. Losowsky, Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome., Gut, vol.20, issue.2, pp.163-168, 1979.
DOI : 10.1136/gut.20.2.163

D. Strich, R. Goldstein, A. Phillips, R. Shemer, Y. Goldberg et al., Anderson??s Disease, Journal of Pediatric Gastroenterology and Nutrition, vol.16, issue.3, pp.257-264, 1993.
DOI : 10.1097/00005176-199304000-00006

N. Peretti, C. Roy, A. Sassolas, C. Deslandres, E. Drouin et al., Chylomicron retention disease: A long term study of two cohorts, Molecular Genetics and Metabolism, vol.97, issue.2, pp.136-142, 2009.
DOI : 10.1016/j.ymgme.2009.02.003

D. Bonnefont-rousselot, B. Condat, A. Sassolas, S. Chebel, R. Bittar et al., Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B, European Journal of Gastroenterology & Hepatology, vol.21, issue.1, pp.104-108, 2009.
DOI : 10.1097/MEG.0b013e3282ffd9f8

C. Braegger, D. Belli, G. Mentha, and B. Steinmann, Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation, European Journal of Pediatrics, vol.157, issue.7, pp.576-578, 1998.
DOI : 10.1007/s004310050882

J. Partin, J. Partin, W. Schubert, and A. Mcadams, Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis, Gastroenterology, vol.67, pp.107-118, 1974.

H. Kayden, The neurologic syndrome of vitamin E deficiency: A significant cause of ataxia, Neurology, vol.43, issue.11, pp.2167-2169, 1993.
DOI : 10.1212/WNL.43.11.2167

R. Sokol, Vitamin E and neurologic deficits, Adv Pediatr, vol.37, pp.119-148, 1990.

S. Siddiqi, VLDL exits from the endoplasmic reticulum in a specialized vesicle, the VLDL transport vesicle, in rat primary hepatocytes, Biochemical Journal, vol.413, issue.2, pp.333-342, 2008.
DOI : 10.1042/BJ20071469

J. Boren, M. Veniant, and S. Young, Apo B100-containing lipoproteins are secreted by the heart., Journal of Clinical Investigation, vol.101, issue.6, pp.1197-1202, 1998.
DOI : 10.1172/JCI1785

L. Nielsen, M. Veniant, J. Boren, M. Raabe, J. Wong et al., Genes for apolipoprotein B and microsomal triglyceride transfer protein are

. Peretti, http://www.ojrd.com/content/5/1/24 expressed in the heart: evidence that the heart has the capacity to synthesize and secrete lipoproteins, Orphanet Journal of Rare Diseases Circulation, vol.5, issue.98, pp.2413-2429, 1998.

B. Christensen, C. Glueck, P. Kwiterovich, I. Degroot, G. Chase et al., Plasma Cholesterol and Triglyceride Distributions in 13,665 Children and Adolescents: the Prevalence Study of the Lipid Research Clinics Program, Pediatric Research, vol.14, issue.3, pp.194-202, 1980.
DOI : 10.1203/00006450-198003000-00004

A. Cefalu, P. Calvo, D. Noto, M. Baldi, V. Valenti et al., Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene, Metabolism, vol.59, issue.4, pp.463-467, 2010.
DOI : 10.1016/j.metabol.2009.07.042

P. Braillon and P. Cochat, Analysis of dual energy X-ray absorptiometry whole body results in children, adolescents and young adults, Applied Radiation and Isotopes, vol.49, issue.5-6, pp.623-624, 1998.
DOI : 10.1016/S0969-8043(97)00195-4

L. Binkovitz, M. Henwood, and P. Sparke, Pediatric Dual-Energy X-ray Absorptiometry: Technique, Interpretation, and Clinical Applications, Seminars in Nuclear Medicine, vol.37, issue.4, pp.303-313, 2007.
DOI : 10.1053/j.semnuclmed.2007.02.007

G. Alex, M. Oliver, and K. Collins, Ataxia with isolated vitamin E deficiency: A clinical, biochemical and genetic diagnosis, Journal of Paediatrics and Child Health, vol.36, issue.5, pp.515-516, 2000.
DOI : 10.1046/j.1440-1754.2000.00534.x

E. Azizi, J. Zaidman, J. Eshchar, and A. Szeinberg, ABETALIPOPROTEINEMIA TREATED WITH PARENTERAL AND ORAL VITAMINS A AND E, AND WITH MEDIUM CHAIN TRIGLYCERIDES, Acta Paediatrica, vol.48, issue.6, pp.796-801, 1978.
DOI : 10.1016/S0014-4835(64)80055-5

M. Malloy, J. Kane, D. Hardman, R. Hamilton, and K. Dalal, Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein., Journal of Clinical Investigation, vol.67, issue.5, pp.1441-1450, 1981.
DOI : 10.1172/JCI110173

R. Miller, C. Davis, D. Illingworth, and W. Bradley, The neuropathy of abetalipoproteinemia, Neurology, vol.30, issue.12, pp.1286-1291, 1980.
DOI : 10.1212/WNL.30.12.1286

J. Triantafillidis, G. Kottaras, S. Sgourous, P. Cheracakis, G. Driva et al., A-??-lipoproteinemia, Journal of Clinical Gastroenterology, vol.26, issue.3, pp.207-211, 1998.
DOI : 10.1097/00004836-199804000-00012

T. Anderson and D. Reid, A double-blind trial of vitamin E in angina pectoris, Am J Clin Nutr, vol.27, pp.1174-1178, 1974.

G. Vatassery, S. Fahn, and M. Kuskowski, Alpha tocopherol in CSF of subjects taking high-dose vitamin E in the DATATOP study, Neurology, vol.50, issue.6, pp.1900-1902, 1998.
DOI : 10.1212/WNL.50.6.1900

K. Papas, J. Kalbfleisch, and R. Mohon, Bioavailability of a Novel, Water-Soluble Vitamin E Formulation in Malabsorbing Patients, Digestive Diseases and Sciences, vol.49, issue.5 Pt 1, pp.347-352, 2007.
DOI : 10.1007/s10620-006-9489-2

E. Jacquemin, B. Hermeziu, Y. Kibleur, I. Friteau, D. Mathieu et al., Bioavailability of oral vitamin E formulations in adult volunteers and children with chronic cholestasis or cystic fibrosis, Journal of Clinical Pharmacy and Therapeutics, vol.104, issue.5, pp.515-522, 2009.
DOI : 10.1111/j.1365-2710.2009.01027.x

D. Muller, J. Lloyd, and O. Wolff, The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption, Journal of Inherited Metabolic Disease, vol.41, issue.S1, pp.88-92, 1985.
DOI : 10.1007/BF01800666

H. Kayden and M. Traber, Absorption, lipoprotein transport, and regulation of plasma concentrations of vitamin E in humans, J Lipid Res, vol.34, pp.343-358, 1993.

. Peretti, Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers, Orphanet Journal of Rare Diseases, vol.5, issue.1, p.24, 2010.
DOI : 10.1186/1750-1172-5-24

URL : https://hal.archives-ouvertes.fr/inserm-00654377