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Items: 1 to 20 of 104

1.

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

Sani MN, Sabbaghian M, Mahjoob F, Cefalù AB, Averna MR, Rezaei N.

Ann Hepatol. 2011 Apr-Jun;10(2):221-6.

2.

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.

3.

Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.

Uslu N, Gürakan F, Yüce A, Demir H, Tarugi P.

Turk J Pediatr. 2010 Jan-Feb;52(1):73-7.

PMID:
20402070
4.

Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.

Al-Shali K, Wang J, Rosen F, Hegele RA.

Clin Genet. 2003 Feb;63(2):135-8.

PMID:
12630961
5.

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
6.

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.

Hammer MB, El Euch-Fayache G, Nehdi H, Feki M, Maamouri-Hicheri W, Hentati F, Amouri R.

J Clin Neurosci. 2014 Feb;21(2):311-5. doi: 10.1016/j.jocn.2013.04.016. Epub 2013 Oct 16.

PMID:
24139731
7.
8.

Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.

Ohashi K, Ishibashi S, Osuga J, Tozawa R, Harada K, Yahagi N, Shionoiri F, Iizuka Y, Tamura Y, Nagai R, Illingworth DR, Gotoda T, Yamada N.

J Lipid Res. 2000 Aug;41(8):1199-204.

9.

A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan.

Akamatsu K, Sakaue H, Tada K, Mizukami Y, Yamaguchi S, Tanaka A, Ohta Y.

Jpn J Med. 1983 Aug;22(3):231-6.

10.

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.

Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, Fadhel NM, Sassolas A, Naceur SM.

Diagn Pathol. 2013 Apr 4;8:54. doi: 10.1186/1746-1596-8-54.

11.

The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.

Berthier MT, Couture P, Houde A, Paradis AM, Sammak A, Verner A, Deprés JP, Gagné C, Gaudet D, Vohl MC.

Mol Genet Metab. 2004 Feb;81(2):140-3.

PMID:
14741197
12.
13.

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
14.

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.

Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P.

Gene. 2013 Jan 1;512(1):28-34. doi: 10.1016/j.gene.2012.09.117. Epub 2012 Oct 6.

PMID:
23043934
15.

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
16.

Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases.

Chardon L, Sassolas A, Dingeon B, Michel-Calemard L, Bovier-Lapierre M, Moulin P, Lachaux A.

Eur J Pediatr. 2009 Aug;168(8):983-9. doi: 10.1007/s00431-008-0888-6. Epub 2008 Dec 9.

PMID:
19066957
17.

[An adult case of probable Bassen-Kornzweig syndrome, presenting resting tremor].

Soejima N, Ohyagi Y, Kikuchi H, Murai H, Shigeto H, Kira J.

Rinsho Shinkeigaku. 2006 Oct;46(10):702-6. Japanese.

PMID:
17323779
18.

The molecular basis of abetalipoproteinemia.

Gregg RE, Wetterau JR.

Curr Opin Lipidol. 1994 Apr;5(2):81-6. Review.

PMID:
8044420
19.

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).

Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, Sassolas A, Lévy E, Tercé F, Collet X, Mas E.

Hum Mutat. 2011 Jul;32(7):751-9. doi: 10.1002/humu.21494. Epub 2011 Jun 14. Erratum in: Hum Mutat. 2011 Oct;32(10):1191-6.

PMID:
21394827
20.

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW, et al.

Am J Hum Genet. 1995 Dec;57(6):1298-310.

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