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Journal Abstract Search

232 related items for PubMed ID: 33994405

  • 41. Rickets and dysmorphic findings in a child with abetalipoproteinemia.
    Hasosah MY, Shesha SJ, Sukkar GA, Bassuni WY.
    Saudi Med J; 2010 Oct; 31(10):1169-71. PubMed ID: 20953537
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  • 42. 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 Oct; 13(1):201-212. PubMed ID: 30522860
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  • 43. Current Diagnosis and Management of Primary Chylomicronemia.
    Okazaki H, Gotoda T, Ogura M, Ishibashi S, Inagaki K, Daida H, Hayashi T, Hori M, Masuda D, Matsuki K, Yokoyama S, Harada-Shiba M.
    J Atheroscler Thromb; 2021 Sep 01; 28(9):883-904. PubMed ID: 33980761
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  • 50. Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.
    Raabe M, Flynn LM, Zlot CH, Wong JS, Véniant MM, Hamilton RL, Young SG.
    Proc Natl Acad Sci U S A; 1998 Jul 21; 95(15):8686-91. PubMed ID: 9671739
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  • 51. A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
    Rodríguez Gutiérrez PG, González García JR, Castillo De León YA, Zárate Guerrero JR, Magaña Torres MT.
    J Clin Lab Anal; 2021 Mar 21; 35(3):e23672. PubMed ID: 33258201
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  • 52. The hypobetalipoproteinemias.
    Schonfeld G.
    Annu Rev Nutr; 1995 Mar 21; 15():23-34. PubMed ID: 8527219
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  • 53. Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases.
    Chardon L, Sassolas A, Dingeon B, Michel-Calemard L, Bovier-Lapierre M, Moulin P, Lachaux A.
    Eur J Pediatr; 2009 Aug 21; 168(8):983-9. PubMed ID: 19066957
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  • 54. Abetalipoproteinemia in a Saudi infant.
    Rafique M, Zia S.
    J Coll Physicians Surg Pak; 2011 Feb 21; 21(2):117-8. PubMed ID: 21333248
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  • 58. Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress.
    Liu Y, Conlon DM, Bi X, Slovik KJ, Shi J, Edelstein HI, Millar JS, Javaheri A, Cuchel M, Pashos EE, Iqbal J, Hussain MM, Hegele RA, Yang W, Duncan SA, Rader DJ, Morrisey EE.
    Cell Rep; 2017 May 16; 19(7):1456-1466. PubMed ID: 28514664
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  • 59. Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.
    Takashima Y, Kodama T, Iida H, Kawamura M, Aburatani H, Itakura H, Akanuma Y, Takaku F, Kawade M.
    Pediatrics; 1985 Mar 16; 75(3):541-6. PubMed ID: 3975124
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  • 60. 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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