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Journal Abstract Search

134 related items for PubMed ID: 32433446

  • 1. 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]

  • 2. 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]

  • 3. Abetalipoproteinemia: a case report.
    Selimoğlu MA, Eşrefoğlu M, Gündoğdu C, Kiliç A.
    Turk J Pediatr; 2001 Oct 01; 43(3):243-5. PubMed ID: 11592517
    [Abstract] [Full Text] [Related]

  • 4. Rickets and dysmorphic findings in a child with abetalipoproteinemia.
    Hasosah MY, Shesha SJ, Sukkar GA, Bassuni WY.
    Saudi Med J; 2010 Oct 01; 31(10):1169-71. PubMed ID: 20953537
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
    Al-Shali K, Wang J, Rosen F, Hegele RA.
    Clin Genet; 2003 Feb 08; 63(2):135-8. PubMed ID: 12630961
    [Abstract] [Full Text] [Related]

  • 7. 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 Feb 08; 10(2):221-6. PubMed ID: 21502686
    [Abstract] [Full Text] [Related]

  • 8. [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 08; 11(10):704-8. PubMed ID: 3692094
    [Abstract] [Full Text] [Related]

  • 9. [Microsomal triglyceride transfer protein and abetalipoproteinemia].
    Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M.
    Ann Endocrinol (Paris); 2000 May 08; 61(2):125-9. PubMed ID: 10891663
    [Abstract] [Full Text] [Related]

  • 10. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.
    Lee J, Hegele RA.
    J Inherit Metab Dis; 2014 May 08; 37(3):333-9. PubMed ID: 24288038
    [Abstract] [Full Text] [Related]

  • 11. Abetalipoproteinemia presenting as severe vitamin K deficiency.
    Caballero FM, Buchanan GR.
    Pediatrics; 1980 Jan 08; 65(1):161-3. PubMed ID: 7355018
    [No Abstract] [Full Text] [Related]

  • 12. 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 08; 22(3):231-6. PubMed ID: 6620711
    [Abstract] [Full Text] [Related]

  • 13. Abetalipoproteinemia and metastatic spinal cord glioblastoma.
    Newman RP, Schaefer EJ, Thomas CB, Oldfield EH.
    Arch Neurol; 1984 May 08; 41(5):554-6. PubMed ID: 6326713
    [Abstract] [Full Text] [Related]

  • 14. A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement?
    Ferreira F, Patel V, Matts S.
    BMJ Case Rep; 2014 Dec 08; 2014():. PubMed ID: 25488886
    [Abstract] [Full Text] [Related]

  • 15. 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]

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  • 17. 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 Apr 04; 16(2):155-159. PubMed ID: 35221233
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
    Wang J, Hegele RA.
    Hum Mutat; 2000 Mar 25; 15(3):294-5. PubMed ID: 10679949
    [Abstract] [Full Text] [Related]

  • 20. 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 25; 284():75-82. PubMed ID: 30875496
    [Abstract] [Full Text] [Related]

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