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Journal Abstract Search

115 related items for PubMed ID: 11792248

  • 1. [Familial hypobetalipoproteinemia: Report of a family and review of Spanish contributions].
    Diego Núñez MA, Cortijo González C.
    An Esp Pediatr; 2002 Jan; 56(1):64-7. PubMed ID: 11792248
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  • 3. Pediatric gallstone disease in familial hypobetalipoproteinemia.
    Lancellotti S, Zaffanello M, Di Leo E, Costa L, Lonardo A, Tarugi P.
    J Hepatol; 2005 Jul; 43(1):188-91. PubMed ID: 15894400
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  • 5. Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.
    Cefalù AB, Norata GD, Ghiglioni DG, Noto D, Uboldi P, Garlaschelli K, Baragetti A, Spina R, Valenti V, Pederiva C, Riva E, Terracciano L, Zoja A, Grigore L, Averna MR, Catapano AL.
    Atherosclerosis; 2015 Mar; 239(1):209-17. PubMed ID: 25618028
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  • 6. Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.
    Burnett JR, Hooper AJ.
    Free Radic Biol Med; 2015 Nov; 88(Pt A):59-62. PubMed ID: 26086616
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  • 7. Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.
    Pulai JI, Zakeri H, Kwok PY, Kim JH, Wu J, Schonfeld G.
    Am J Med Genet; 1998 Nov 16; 80(3):218-20. PubMed ID: 9843041
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  • 8. Recurrent familial hypobetalipoproteinemia-induced nonalcoholic fatty liver disease after living donor liver transplantation.
    Harada N, Soejima Y, Taketomi A, Yoshizumi T, Uchiyama H, Ikegami T, Saibara T, Nishizaki T, Maehara Y.
    Liver Transpl; 2009 Jul 16; 15(7):806-9. PubMed ID: 19562718
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  • 9. A clinical and neurophysiological investigation of a Danish kindred with heterozygous familial hypobetalipoproteinemia.
    Andersen GE, Trojaborg W, Lou HC.
    Acta Paediatr Scand; 1979 Mar 16; 68(2):155-9. PubMed ID: 419983
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  • 10. Afibrinogenemia and hypobetalipoproteinemia in a kindred.
    Lane DM, McConathy WJ, Comp PC, Gilcher RO.
    Arch Intern Med; 1991 Apr 16; 151(4):800-4. PubMed ID: 2012467
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  • 11. Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
    Yue P, Yuan B, Gerhard DS, Neuman RJ, Isley WL, Harris WS, Schonfeld G.
    Hum Mutat; 2002 Aug 16; 20(2):110-6. PubMed ID: 12124991
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  • 12. [Extreme degree familial hypobetalipoproteinemia caused by hypothetic double heterozygosity in a subject with severe mental deficiency].
    Acocella M, Cossio M, Barucci M, Ciardetti A, Archi G, Rossini R, Bassini E, Lusetti W.
    Pediatr Med Chir; 1984 Aug 16; 6(6):843-52. PubMed ID: 6545600
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  • 13. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
    Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P.
    Atherosclerosis; 2005 Jun 16; 180(2):311-8. PubMed ID: 15910857
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  • 14. [Familial hypobetalipoproteinemia with steatorrhea and malabsorption].
    Strich D, Goldstein R, Levy E, Gilai A, Kazuni A, Freier S.
    Harefuah; 1991 Nov 01; 121(9):286-90. PubMed ID: 1800274
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  • 15. 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
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  • 16. Hepatosteatosis with hypobetalipoproteinemia.
    Sen D, Dagdelen S, Erbas T.
    J Natl Med Assoc; 2007 Mar 01; 99(3):284-6. PubMed ID: 17393954
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  • 18. [Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature].
    Zhang YQ, Wang JS.
    Zhonghua Er Ke Za Zhi; 2023 Jan 02; 61(1):70-75. PubMed ID: 36594125
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  • 19. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK.
    Dan Med Bull; 2002 Nov 02; 49(4):318-45. PubMed ID: 12553167
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  • 20. In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia.
    Rabacchi C, Simone ML, Pisciotta L, Di Leo E, Bocchi D, Pietrangelo A, D'Addato S, Bertolini S, Calandra S, Tarugi P.
    J Clin Lipidol; 2019 Nov 02; 13(6):960-969. PubMed ID: 31629702
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