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Journal Abstract Search

133 related items for PubMed ID: 27578136

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  • 2. 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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  • 3. 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 04; 8():54. PubMed ID: 23556456
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  • 4. 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 04; 35(3):e23672. PubMed ID: 33258201
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  • 5. 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 04; 21(2):311-5. PubMed ID: 24139731
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  • 6. 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 04; 284():75-82. PubMed ID: 30875496
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  • 8. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
    Al-Shali K, Wang J, Rosen F, Hegele RA.
    Clin Genet; 2003 Feb 04; 63(2):135-8. PubMed ID: 12630961
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  • 14. 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 Feb 04; 9():23247096211022484. PubMed ID: 34078172
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  • 15. 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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  • 16. Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.
    Talmud PJ, Lloyd JK, Muller DP, Collins DR, Scott J, Humphries S.
    J Clin Invest; 1988 Nov 25; 82(5):1803-6. PubMed ID: 2903181
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  • 17. Current Diagnosis and Management of Abetalipoproteinemia.
    Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M.
    J Atheroscler Thromb; 2021 Oct 01; 28(10):1009-1019. PubMed ID: 33994405
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  • 18. A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.
    Sasaki K, Tada H, Komatsu T, Terada H, Endo Y, Ikewaki K, Uehara Y.
    J Atheroscler Thromb; 2024 Nov 01; 31(11):1634-1640. PubMed ID: 38749717
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  • 19. 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 01; 168(8):983-9. PubMed ID: 19066957
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  • 20. Novel missense MTTP gene mutations causing abetalipoproteinemia.
    Miller SA, Burnett JR, Leonis MA, McKnight CJ, van Bockxmeer FM, Hooper AJ.
    Biochim Biophys Acta; 2014 Oct 01; 1842(10):1548-54. PubMed ID: 25108285
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