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Journal Abstract Search

146 related items for PubMed ID: 24139731

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  • 4. 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 01; 512(1):28-34. PubMed ID: 23043934
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  • 7. 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 Jan 01; 15(4):569-573. PubMed ID: 34052173
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  • 9. 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
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  • 10. 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 25; 41(8):1199-204. PubMed ID: 10946006
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  • 12. A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
    Rodríguez Gutiérrez PG, González García JR, Castillo De León YA, Zárate Guerrero JR, Magaña Torres MT.
    J Clin Lab Anal; 2021 Mar 25; 35(3):e23672. PubMed ID: 33258201
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  • 13. 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
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  • 15. A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism.
    Al-Mahdili HA, Hooper AJ, Sullivan DR, Stewart PM, Burnett JR.
    Ann Clin Biochem; 2006 Nov 25; 43(Pt 6):516-9. PubMed ID: 17132287
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  • 16. Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
    Di Filippo M, Varret M, Boehm V, Rabès JP, Ferkdadji L, Abramowitz L, Dumont S, Lenaerts C, Boileau C, Joly F, Schmitz J, Samson-Bouma ME, Bonnefont-Rousselot D.
    J Clin Lipidol; 2019 Nov 25; 13(1):201-212. PubMed ID: 30522860
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  • 17. 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 25; 180(2):311-8. PubMed ID: 15910857
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  • 18. 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 25; 168(8):983-9. PubMed ID: 19066957
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  • 19. 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 Aug 25; 52(1):73-7. PubMed ID: 20402070
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  • 20. Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
    Vlasschaert C, McIntyre AD, Thomson LA, Kennedy BA, Ratko S, Prasad C, Hegele RA.
    J Investig Med High Impact Case Rep; 2021 Aug 25; 9():23247096211022484. PubMed ID: 34078172
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