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Journal Abstract Search

232 related items for PubMed ID: 33994405

  • 21. Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism.
    Soylu Ustkoyuncu P, Gokay S, Eren E, Dogan D, Yildiz G, Yilmaz A, Turkan Mutlu F.
    J Clin Res Pediatr Endocrinol; 2020 Nov 25; 12(4):427-431. PubMed ID: 31914726
    [Abstract] [Full Text] [Related]

  • 22. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
    Wang J, Hegele RA.
    Hum Mutat; 2000 Mar 25; 15(3):294-5. PubMed ID: 10679949
    [Abstract] [Full Text] [Related]

  • 23. Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.
    Takahashi M, Ozaki N, Nagashima S, Wakabayashi T, Iwamoto S, Ishibashi S.
    J Clin Lipidol; 2021 Mar 25; 15(4):569-573. PubMed ID: 34052173
    [Abstract] [Full Text] [Related]

  • 24. Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia.
    Du EZ, Wang SL, Kayden HJ, Sokol R, Curtiss LK, Davis RA.
    J Lipid Res; 1996 Jun 25; 37(6):1309-15. PubMed ID: 8808765
    [Abstract] [Full Text] [Related]

  • 25. 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 Jun 25; 10(2):221-6. PubMed ID: 21502686
    [Abstract] [Full Text] [Related]

  • 26. High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population.
    Guay SP, Paquette M, Girard L, Desgagné V, Gosse G, Poulin V, Bouchard L, Baass A.
    J Clin Lipidol; 2024 Jun 25; 18(4):e625-e630. PubMed ID: 38908974
    [Abstract] [Full Text] [Related]

  • 27. Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
    Walsh MT, Di Leo E, Okur I, Tarugi P, Hussain MM.
    Biochim Biophys Acta; 2016 Nov 25; 1861(11):1623-1633. PubMed ID: 27487388
    [Abstract] [Full Text] [Related]

  • 28. Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.
    Burnett JR, Hooper AJ.
    Free Radic Biol Med; 2015 Nov 25; 88(Pt A):59-62. PubMed ID: 26086616
    [Abstract] [Full Text] [Related]

  • 29. Hypobetalipoproteinemia and abetalipoproteinemia.
    Welty FK.
    Curr Opin Lipidol; 2014 Jun 25; 25(3):161-8. PubMed ID: 24751931
    [Abstract] [Full Text] [Related]

  • 30. Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.
    Hooper AJ, Burnett JR, Watts GF.
    Circ Res; 2015 Jan 02; 116(1):193-205. PubMed ID: 25552696
    [Abstract] [Full Text] [Related]

  • 31. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.
    Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, Wetterau JR.
    Annu Rev Nutr; 2000 Jan 02; 20():663-97. PubMed ID: 10940349
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  • 34. A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement?
    Ferreira F, Patel V, Matts S.
    BMJ Case Rep; 2014 Dec 08; 2014():. PubMed ID: 25488886
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  • 36. 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 08; 32(7):751-9. PubMed ID: 21394827
    [Abstract] [Full Text] [Related]

  • 37. Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.
    Di Filippo M, Collardeau Frachon S, Janin A, Rajan S, Marmontel O, Decourt C, Rubio A, Nony S, Dumont S, Cuerq C, Charrière S, Moulin P, Lachaux A, Hussain MM, Bozon D, Peretti N.
    Atherosclerosis; 2019 May 08; 284():75-82. PubMed ID: 30875496
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  • 39. 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, Castro G.
    Atherosclerosis; 1995 Dec 08; 118(2):183-91. PubMed ID: 8770313
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