Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases-Reference-Cited by-同舟云学术

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

Published:2008-12-09 Issue:8 Volume:168 Page:983-989
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Chardon Laurence,Sassolas Agnès,Dingeon Bernard,Michel-Calemard Laurence,Bovier-Lapierre Michel,Moulin Philippe,Lachaux Alain

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-008-0888-6.pdf

Reference21 articles.

1. Al Shali K, Wang J, Rosen F, Hegele RA (2003) Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. Clin Genet 63:135–138 doi: 10.1046/j.0009-9163.2002.00175.x

2. Anwar K, Iqbal J, Hussain MM (2007) Mechanisms involved in vitamin E transport by primary enterocytes and in vivo absorption. J Lipid Res 48(9):2028–2038 doi: 10.1194/jlr.M700207-JLR200

3. Chowers I, Banin E, Merin S, Cooper M, Granot E (2001) Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye 15:525–530

4. Clarke MW, Hooper AJ, Headlam HA, Wu JH, Croft KD, Burnett JR (2006) Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia. Clin Chem 52(7):1339–1345 doi: 10.1373/clinchem.2006.068692

5. Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P (2005) Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis 180(2):311–318 doi: 10.1016/j.atherosclerosis.2004.12.004

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