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150 related items for PubMed ID: 26396722

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

  • 2. 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 Jul; 9():23247096211022484. PubMed ID: 34078172
    [Abstract] [Full Text] [Related]

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

  • 4. 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]

  • 5. 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]

  • 6. 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]

  • 7. A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism.
    Al-Mahdili HA, Hooper AJ, Sullivan DR, Stewart PM, Burnett JR.
    Ann Clin Biochem; 2006 Nov 25; 43(Pt 6):516-9. PubMed ID: 17132287
    [Abstract] [Full Text] [Related]

  • 8. 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 25; 30(6):990. PubMed ID: 18027103
    [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. 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 Apr 01; 10(2):221-6. PubMed ID: 21502686
    [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 and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.
    Lee J, Hegele RA.
    J Inherit Metab Dis; 2014 May 04; 37(3):333-9. PubMed ID: 24288038
    [Abstract] [Full Text] [Related]

  • 13. 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 04; 32(7):751-9. PubMed ID: 21394827
    [Abstract] [Full Text] [Related]

  • 14. Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
    Walsh MT, Di Leo E, Okur I, Tarugi P, Hussain MM.
    Biochim Biophys Acta; 2016 Nov 04; 1861(11):1623-1633. PubMed ID: 27487388
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 Feb 04; 13(1):201-212. PubMed ID: 30522860
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
    Al-Shali K, Wang J, Rosen F, Hegele RA.
    Clin Genet; 2003 Feb 01; 63(2):135-8. PubMed ID: 12630961
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 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 01; 284():75-82. PubMed ID: 30875496
    [Abstract] [Full Text] [Related]

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