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Journal Abstract Search


139 related items for PubMed ID: 24857410

  • 1.
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  • 3. Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.
    Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.
    Mol Genet Metab; 2009 Dec; 98(4):393-9. PubMed ID: 19656701
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  • 4. Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia.
    Uchihara T, Ohashi K, Kitagawa M, Kurata M, Nakamura A, Hirokawa K, Kasuga T, Kobayashi T.
    Acta Neuropathol; 2010 Jan; 119(1):135-45. PubMed ID: 19415310
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  • 6. Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.
    Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.
    J Biol Chem; 2011 Oct 07; 286(40):35283-90. PubMed ID: 21846724
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  • 7. [Mucolipidosis: clinical and genetic aspects].
    Kolodny EH.
    Rev Neurol; 1998 Aug 07; 27(156):337-41. PubMed ID: 9736966
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  • 8. Mitochondrial aberrations in mucolipidosis Type IV.
    Jennings JJ, Zhu JH, Rbaibi Y, Luo X, Chu CT, Kiselyov K.
    J Biol Chem; 2006 Dec 22; 281(51):39041-50. PubMed ID: 17056595
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  • 9. [Mucolipidosis type III (case report)].
    Ligutić I, Barisić I, Fumić K, Sabados M.
    Lijec Vjesn; 1996 Dec 22; 118(1-2):17-20. PubMed ID: 8759415
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  • 10. Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.
    Kerr DA, Memoli VA, Cathey SS, Harris BT.
    Arch Pathol Lab Med; 2011 Apr 22; 135(4):503-10. PubMed ID: 21466370
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  • 12. Mucolipidosis IV: morphology and histochemistry of an autopsy case.
    Folkerth RD, Alroy J, Lomakina I, Skutelsky E, Raghavan SS, Kolodny EH.
    J Neuropathol Exp Neurol; 1995 Mar 22; 54(2):154-64. PubMed ID: 7876885
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  • 13. Prenatal diagnosis of mucolipidosis II--electron microscopy and biochemical evaluation.
    Carey WF, Jaunzems A, Richardson M, Fong BA, Chin SJ, Nelson PV.
    Prenat Diagn; 1999 Mar 22; 19(3):252-6. PubMed ID: 10210124
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  • 14. Biochemical and ultrastructural diagnostic problems in mucolipidoses.
    László A, Lászik Z, Klujber L, Havass Z.
    Acta Paediatr Hung; 1991 Mar 22; 31(4):423-32. PubMed ID: 1790025
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  • 16. I-cell disease (Mucolipidosis II).
    Kabra M, Gulati S, Kaur M, Sharma J, Singh A, Chopra V, Menon PS, Kalra V.
    Indian J Pediatr; 2000 Sep 22; 67(9):683-7. PubMed ID: 11028124
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  • 18. Lysosomal exocytosis is impaired in mucolipidosis type IV.
    LaPlante JM, Sun M, Falardeau J, Dai D, Brown EM, Slaugenhaupt SA, Vassilev PM.
    Mol Genet Metab; 2006 Dec 22; 89(4):339-48. PubMed ID: 16914343
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  • 19. Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
    Yang M, Cho SY, Park HD, Choi R, Kim YE, Kim J, Lee SY, Ki CS, Kim JW, Sohn YB, Song J, Jin DK.
    Orphanet J Rare Dis; 2017 Jan 17; 12(1):11. PubMed ID: 28095893
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  • 20. [Hereditary lysosomal diseases in Mexico. II. Laboratory diagnosis of mucopolysaccharidosis and mucolipidosis].
    Zetina ME, Gonzalez-Noriega A.
    Rev Invest Clin; 1990 Jan 17; 42(3):165-73. PubMed ID: 2125355
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