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Journal Abstract Search

113 related items for PubMed ID: 1449714

  • 41. [Detection of vacuolated peripheral blood lymphocytes in screening for and diagnosis of lysosomal storage diseases].
    Chang XZ, Liu JY, Wu Y, Jiang YW, Xiong H, Wang S, Qin J.
    Zhonghua Er Ke Za Zhi; 2011 Feb; 49(2):135-8. PubMed ID: 21426694
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  • 42. Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction.
    Witkop CJ, Wolfe LS, Cal SX, White JG, Townsend D, Keenan KM.
    Am J Med; 1987 Mar; 82(3):463-70. PubMed ID: 3493691
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  • 43. Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.
    Lindblom N, Kivinen S, Heiskala H, Laakso ML, Kaski M.
    J Inherit Metab Dis; 2006 Oct; 29(5):637-46. PubMed ID: 16944277
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  • 44. [Adult-onset neuronal ceroid lipofuscinosis--a case report with biological study].
    Mimura Y, Johnosono M, Izumo S, Kuriyama M, Osame M.
    Rinsho Shinkeigaku; 1992 Jul; 32(7):771-3. PubMed ID: 1291175
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  • 45. Adult type of neuronal ceroid lipofuscinosis.
    Martin JJ.
    Dev Neurosci; 1991 Jul; 13(4-5):331-8. PubMed ID: 1817040
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  • 46. Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.
    Autti T, Joensuu R, Aberg L.
    Neuroradiology; 2007 Jul; 49(7):571-8. PubMed ID: 17334752
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  • 49. Hydrolysis of dolichyl esters by oviduct membranes and characterization of endogenous dolichyl esters.
    Malvar TM, Hallahan TW, Beach DH, Lucas JJ.
    Arch Biochem Biophys; 1985 May 01; 238(2):401-9. PubMed ID: 3994381
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  • 50. Leukocytes in neuronal ceroid-lipofuscinoses: function and apoptosis.
    Kieseier BC, Wisniewski KE, Park E, Schuller-Levis G, Mehta PD, Goebel HH.
    Brain Dev; 1997 Jul 01; 19(5):317-22. PubMed ID: 9253483
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  • 57. Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry.
    Tyynelä J, Suopanki J, Santavuori P, Baumann M, Haltia M.
    J Neuropathol Exp Neurol; 1997 Apr 01; 56(4):369-75. PubMed ID: 9100667
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  • 59. Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria.
    Autti T, Lönnqvist T, Joensuu R.
    Acta Radiol; 2008 Jul 01; 49(6):687-92. PubMed ID: 18568562
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  • 60. High-mannose dolichol-linked oligosaccharides in infantile ceroid-lipofuscinosis.
    Hall NA, Haltia M, Patrick AD.
    Biochem Soc Trans; 1989 Dec 01; 17(6):1032-3. PubMed ID: 2628062
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