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Journal Abstract Search

145 related items for PubMed ID: 21502686

  • 1. 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; 10(2):221-6. PubMed ID: 21502686
    [Abstract] [Full Text] [Related]

  • 2. 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; 52(1):73-7. PubMed ID: 20402070
    [Abstract] [Full Text] [Related]

  • 3. 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; 284():75-82. PubMed ID: 30875496
    [Abstract] [Full Text] [Related]

  • 4. Abetalipoproteinemia: two case reports and literature review.
    Zamel R, Khan R, Pollex RL, Hegele RA.
    Orphanet J Rare Dis; 2008 Jul 08; 3():19. PubMed ID: 18611256
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
    Al-Shali K, Wang J, Rosen F, Hegele RA.
    Clin Genet; 2003 Feb 25; 63(2):135-8. PubMed ID: 12630961
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetalipoproteinemia.
    Sivamurukan P, Boddu D, Pulimood A, Agarwal I.
    J Pediatr Hematol Oncol; 2021 Apr 01; 43(3):e429-e430. PubMed ID: 32433446
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 11. A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan.
    Akamatsu K, Sakaue H, Tada K, Mizukami Y, Yamaguchi S, Tanaka A, Ohta Y.
    Jpn J Med; 1983 Aug 01; 22(3):231-6. PubMed ID: 6620711
    [Abstract] [Full Text] [Related]

  • 12. Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.
    Vongsuvanh R, Hooper AJ, Coakley JC, Macdessi JS, O'Loughlin EV, Burnett JR, Gaskin KJ.
    J Inherit Metab Dis; 2007 Nov 01; 30(6):990. PubMed ID: 18027103
    [Abstract] [Full Text] [Related]

  • 13. Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.
    Najah M, Di Leo E, Awatef J, Magnolo L, Imene J, Pinotti E, Bahri M, Barsaoui S, Brini I, Fekih M, Slimane MN, Tarugi P.
    Clin Chim Acta; 2009 Mar 01; 401(1-2):51-6. PubMed ID: 19056372
    [Abstract] [Full Text] [Related]

  • 14. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
    Wang J, Hegele RA.
    Hum Mutat; 2000 Mar 01; 15(3):294-5. PubMed ID: 10679949
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 35(3):e23672. PubMed ID: 33258201
    [Abstract] [Full Text] [Related]

  • 16. 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 Mar 01; 10(4):1030-1034. PubMed ID: 27578136
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 41(8):1199-204. PubMed ID: 10946006
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 35(3):236-41. PubMed ID: 27160094
    [Abstract] [Full Text] [Related]

  • 19. Endoscopic assessment in abetalipoproteinemia (Bassen-Kornzweig-syndrome).
    Delpre G, Kadish U, Glantz I, Avidor I.
    Endoscopy; 1978 Feb 01; 10(1):59-62. PubMed ID: 631097
    [Abstract] [Full Text] [Related]

  • 20. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.
    Lee J, Hegele RA.
    J Inherit Metab Dis; 2014 May 01; 37(3):333-9. PubMed ID: 24288038
    [Abstract] [Full Text] [Related]

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