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Items: 1 to 20 of 111

1.

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Lee J, Hegele RA.

J Inherit Metab Dis. 2014 May;37(3):333-9. doi: 10.1007/s10545-013-9665-4. Epub 2013 Nov 28. Review.

PMID:
24288038
2.

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

Yilmaz BS, Mungan NO, Di Leo E, Magnolo L, Artuso L, Bernardis I, Tumgor G, Kor D, Tarugi P.

Clin Chim Acta. 2016 Jan 15;452:185-90. doi: 10.1016/j.cca.2015.11.017. Epub 2015 Nov 22.

PMID:
26612772
3.

Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.

Vongsuvanh R, Hooper AJ, Coakley JC, Macdessi JS, O'Loughlin EV, Burnett JR, Gaskin KJ.

J Inherit Metab Dis. 2007 Nov;30(6):990. Epub 2007 Nov 21.

PMID:
18027103
4.

Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization.

Aguie GA, Rader DJ, Clavey V, Traber MG, Torpier G, Kayden HJ, Fruchart JC, Brewer HB Jr, Castro G.

Atherosclerosis. 1995 Dec;118(2):183-91.

PMID:
8770313
5.

Abetalipoproteinemia: two case reports and literature review.

Zamel R, Khan R, Pollex RL, Hegele RA.

Orphanet J Rare Dis. 2008 Jul 8;3:19. doi: 10.1186/1750-1172-3-19. Review.

PMID:
18611256
6.

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P.

Atherosclerosis. 2005 Jun;180(2):311-8. Epub 2005 Jan 19.

PMID:
15910857
7.

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.

Najah M, Di Leo E, Awatef J, Magnolo L, Imene J, Pinotti E, Bahri M, Barsaoui S, Brini I, Fekih M, Slimane MN, Tarugi P.

Clin Chim Acta. 2009 Mar;401(1-2):51-6. doi: 10.1016/j.cca.2008.11.012. Epub 2008 Nov 21.

PMID:
19056372
8.

Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.

Tarugi P, Averna M.

Adv Clin Chem. 2011;54:81-107. Review.

PMID:
21874758
9.

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

Di Filippo M, Moulin P, Roy P, Samson-Bouma ME, Collardeau-Frachon S, Chebel-Dumont S, Peretti N, Dumortier J, Zoulim F, Fontanges T, Parini R, Rigoldi M, Furlan F, Mancini G, Bonnefont-Rousselot D, Bruckert E, Schmitz J, Scoazec JY, Charrière S, Villar-Fimbel S, Gottrand F, Dubern B, Doummar D, Joly F, Liard-Meillon ME, Lachaux A, Sassolas A.

J Hepatol. 2014 Oct;61(4):891-902. doi: 10.1016/j.jhep.2014.05.023. Epub 2014 May 16.

PMID:
24842304
10.

The hypobetalipoproteinemias.

Schonfeld G.

Annu Rev Nutr. 1995;15:23-34. Review.

PMID:
8527219
11.
12.

Update on primary hypobetalipoproteinemia.

Hooper AJ, Burnett JR.

Curr Atheroscler Rep. 2014 Jul;16(7):423. doi: 10.1007/s11883-014-0423-3. Review.

PMID:
24781598
13.

Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.

Burnett JR, Hooper AJ.

Free Radic Biol Med. 2015 Nov;88(Pt A):59-62. doi: 10.1016/j.freeradbiomed.2015.05.044. Epub 2015 Jun 16. Review.

PMID:
26086616
14.

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.

Martín-Morales R, García-Díaz JD, Tarugi P, González-Santos P, Saavedra-Vallejo P, Magnolo L, Mesa-Latorre JM, di Leo E, Valdivielso P.

Gene. 2013 Nov 15;531(1):92-6. doi: 10.1016/j.gene.2013.08.049. Epub 2013 Aug 31.

PMID:
24001780
15.

Homozygous hypobetalipoproteinemia with spared chylomicron formation.

Harano Y, Kojima H, Nakano T, Harada M, Kashiwagi A, Nakajima Y, Hidaka TH, Ohtsuki T, Suzuki T, Tamura A, et al.

Metabolism. 1989 Jan;38(1):1-7.

PMID:
2909827
16.

Using genetically engineered mice to understand apolipoprotein-B deficiency syndromes in humans.

Raabe M, Kim E, Véniant M, Nielsen LB, Young SG.

Proc Assoc Am Physicians. 1998 Nov-Dec;110(6):521-30. Review.

PMID:
9824535
17.

Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.

Raabe M, Flynn LM, Zlot CH, Wong JS, Véniant MM, Hamilton RL, Young SG.

Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8686-91.

PMID:
9671739
18.

Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.

Hooper AJ, Burnett JR, Watts GF.

Circ Res. 2015 Jan 2;116(1):193-205. doi: 10.1161/CIRCRESAHA.116.304637. Review.

PMID:
25552696
19.

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.

Lancellotti S, Di Leo E, Penacchioni JY, Balli F, Viola L, Bertolini S, Calandra S, Tarugi P.

Biochim Biophys Acta. 2004 Jan 20;1688(1):61-7.

PMID:
14732481
20.

Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells.

Leiper JM, Bayliss JD, Pease RJ, Brett DJ, Scott J, Shoulders CC.

J Biol Chem. 1994 Sep 2;269(35):21951-4.

PMID:
8071315

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