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Journal Abstract Search

98 related items for PubMed ID: 4282263

  • 1. Mucolipidosis III (pseudo-Hurler polydystrophy).
    Kelly TE, Reynolds CW, Siggers DC.
    Birth Defects Orig Artic Ser; 1974; 10(12):478-83. PubMed ID: 4282263
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  • 8. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.
    Reitman ML, Varki A, Kornfeld S.
    J Clin Invest; 1981 May; 67(5):1574-9. PubMed ID: 6262380
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  • 10. Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study.
    Stein H, Berman ER, Livni N, Merin S, Sheskin J, Cohen T.
    Isr J Med Sci; 1974 May; 10(5):463-75. PubMed ID: 4213328
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  • 11. Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.
    Kelly TE, Thomas GH, Taylor HA, McKusick VA, Sly WS, Glaser JH, Robinow M, Luzzatti L, Espiritu C, Feingold M, Bull MJ, Ashenhurst EM, Ives EJ.
    Johns Hopkins Med J; 1975 Oct; 137(4):156-75. PubMed ID: 810612
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  • 12. Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.
    Mueller OT, Shows TB, Opitz JM.
    Am J Med Genet; 1984 Jul; 18(3):547-56. PubMed ID: 6433708
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  • 14. [Differential diagnosis of the Pfaundler-Hurler syndrome].
    Czech W, Canigiani G, Wickenhauser J.
    Wien Med Wochenschr; 1972 Nov 25; 122(48):707-14. PubMed ID: 4263939
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  • 15. [Type II mucolipidosis (I-cell disease)].
    Walbaum R, Dehaene P, Scharfman W, Farriaux JP, Tondeur M, Vamos-Hurwitz E, Kint JA, Van Hoof F.
    Arch Fr Pediatr; 1973 Nov 25; 30(6):577-93. PubMed ID: 4375946
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  • 16. [Mucopolysaccharidosis].
    Gajdos A.
    Nouv Presse Med; 1977 May 14; 6(20):1745-6. PubMed ID: 141039
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  • 17. Conjunctival ultrastructure in mucolipidosis 3 (pseudo-Hurler polydystrophy).
    Quigley HA, Goldberg MF.
    Invest Ophthalmol; 1971 Aug 14; 10(8):568-80. PubMed ID: 4255138
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  • 18. Bilateral carpal tunnel syndrome in childhood. A report of two sisters with mucolipidosis III (pseudo-Hurler polydystrophy).
    Starreveld E, Ashenhurst EM.
    Neurology; 1975 Mar 14; 25(3):234-8. PubMed ID: 803649
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  • 19. [Mucolipidosis. biologic characteristics (author's transl)].
    Gatti R, Borrone C, Torreblanca J, Cavalieri S, de Martini I, Filocamo M, Antelo MC.
    An Esp Pediatr; 1979 Mar 14; 12(8-9):563-74. PubMed ID: 115347
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  • 20. [Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses].
    Dreyfus JC, Poenaru L.
    Arch Fr Pediatr; 1975 Mar 14; 32(6):503-14. PubMed ID: 810108
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