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Journal Abstract Search

146 related items for PubMed ID: 31914726

  • 1. 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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  • 3. 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 25; 32(7):751-9. PubMed ID: 21394827
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  • 4. 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 25; 21(2):311-5. PubMed ID: 24139731
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  • 5. 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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  • 6. 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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  • 9. Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.
    Gündüz M, Özaydın E, Atar MB, Koç N, Kırsaçlıoğlu C, Köse G, Cefalù AB, Averna M, Tarugi P.
    Indian J Gastroenterol; 2016 May 04; 35(3):236-41. PubMed ID: 27160094
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  • 10. 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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  • 11. A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia.
    Paquette M, Dufour R, Hegele RA, Baass A.
    J Clin Lipidol; 2016 Jan 01; 10(4):1030-1034. PubMed ID: 27578136
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  • 17. Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.
    Raabe M, Flynn LM, Zlot CH, Wong JS, Véniant MM, Hamilton RL, Young SG.
    Proc Natl Acad Sci U S A; 1998 Jul 21; 95(15):8686-91. PubMed ID: 9671739
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  • 18. Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism.
    Acar S.
    J Clin Res Pediatr Endocrinol; 2020 Jun 03; 12(2):223-224. PubMed ID: 32157853
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  • 19. 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 Jun 03; 9():23247096211022484. PubMed ID: 34078172
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  • 20. 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 Jun 03; 13(1):201-212. PubMed ID: 30522860
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