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Journal Abstract Search


232 related items for PubMed ID: 33994405

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
    Wakabayashi T, Takahashi M, Okazaki H, Okazaki S, Yokote K, Tada H, Ogura M, Ishigaki Y, Yamashita S, Harada-Shiba M, Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan.
    J Atheroscler Thromb; 2024 Jul 01; 31(7):1005-1023. PubMed ID: 38710625
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Burnett JR, Hooper AJ, Hegele RA.
    ; 1993 Jul 01. PubMed ID: 30358967
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. 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]

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

  • 8. Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins.
    Le R, Zhao L, Hegele RA.
    J Clin Lipidol; 2022 Nov 01; 16(2):155-159. PubMed ID: 35221233
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 21(2):311-5. PubMed ID: 24139731
    [Abstract] [Full Text] [Related]

  • 10. [Abetalipoproteinemia. Apropos of 2 cases].
    Willemin B, Coumaros D, Zerbe S, Weill-Bousson M, Annonier P, Hirsch E, Aby MA, Schmutz G, Bockel R.
    Gastroenterol Clin Biol; 1987 Oct 01; 11(10):704-8. PubMed ID: 3692094
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Abetalipoproteinemia: a case report.
    Selimoğlu MA, Eşrefoğlu M, Gündoğdu C, Kiliç A.
    Turk J Pediatr; 2001 Apr 04; 43(3):243-5. PubMed ID: 11592517
    [Abstract] [Full Text] [Related]

  • 13. 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 Apr 04; 9():23247096211022484. PubMed ID: 34078172
    [Abstract] [Full Text] [Related]

  • 14. 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 Apr 04; 10(4):1030-1034. PubMed ID: 27578136
    [Abstract] [Full Text] [Related]

  • 15. Guidance for the diagnosis and treatment of hypolipidemia disorders.
    Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N.
    J Clin Lipidol; 2022 Apr 04; 16(6):797-812. PubMed ID: 36243606
    [Abstract] [Full Text] [Related]

  • 16. A Male Infant with Abetalipoproteinemia: A Case Report from Iran.
    Rashtian P, Najafi Sani M, Jalilian R.
    Middle East J Dig Dis; 2015 Jul 04; 7():181-4. PubMed ID: 26396722
    [Abstract] [Full Text] [Related]

  • 17. [Microsomal triglyceride transfer protein and abetalipoproteinemia].
    Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M.
    Ann Endocrinol (Paris); 2000 May 04; 61(2):125-9. PubMed ID: 10891663
    [Abstract] [Full Text] [Related]

  • 18. Abetalipoproteinemia with an ApoB-100-lipoprotein(a) glycoprotein complex in plasma. Indication for an assembly defect.
    Menzel HJ, Dieplinger H, Lackner C, Hoppichler F, Lloyd JK, Muller DR, Labeur C, Talmud PJ, Utermann G.
    J Biol Chem; 1990 Jan 15; 265(2):981-6. PubMed ID: 2295628
    [Abstract] [Full Text] [Related]

  • 19. Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
    Di Filippo M, Créhalet H, Samson-Bouma ME, Bonnet V, Aggerbeck LP, Rabès JP, Gottrand F, Luc G, Bozon D, Sassolas A.
    J Lipid Res; 2012 Mar 15; 53(3):548-555. PubMed ID: 22236406
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 401(1-2):51-6. PubMed ID: 19056372
    [Abstract] [Full Text] [Related]


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