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Journal Abstract Search

115 related items for PubMed ID: 164511

  • 1. The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family.
    Biemer JJ, McCammon RE.
    J Lab Clin Med; 1975 Apr; 85(4):556-65. PubMed ID: 164511
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  • 2. 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
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  • 3. Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization.
    Aguie GA, Rader DJ, Clavey V, Traber MG, Torpier G, Kayden HJ, Fruchart JC, Brewer HB, Castro G.
    Atherosclerosis; 1995 Dec 01; 118(2):183-91. PubMed ID: 8770313
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  • 4. 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
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  • 5. 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
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  • 7. 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
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  • 10. The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.
    Berthier MT, Couture P, Houde A, Paradis AM, Sammak A, Verner A, Deprés JP, Gagné C, Gaudet D, Vohl MC.
    Mol Genet Metab; 2004 Feb 04; 81(2):140-3. PubMed ID: 14741197
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  • 12. Atypical retinitis pigmentosa in familial hypobetalipoproteinemia.
    Yee RD, Herbert PN, Bergsma DR, Biemer JJ.
    Am J Ophthalmol; 1976 Jul 04; 82(1):64-71. PubMed ID: 180811
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  • 15. Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.
    Talmud PJ, Lloyd JK, Muller DP, Collins DR, Scott J, Humphries S.
    J Clin Invest; 1988 Nov 04; 82(5):1803-6. PubMed ID: 2903181
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  • 18. 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 04; 284():75-82. PubMed ID: 30875496
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  • 20. Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.
    Takahashi M, Ozaki N, Nagashima S, Wakabayashi T, Iwamoto S, Ishibashi S.
    J Clin Lipidol; 2021 May 04; 15(4):569-573. PubMed ID: 34052173
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