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Journal Abstract Search

182 related items for PubMed ID: 826105

  • 21. Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
    Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF.
    Hum Mutat; 1995; 6(1):55-9. PubMed ID: 7550232
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  • 26. Chemical definition of the mucopolysaccharidoses.
    Constantopoulos G, Dekaban AS.
    Clin Chim Acta; 1975 Mar 24; 59(3):321-36. PubMed ID: 123832
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  • 27. A canine model of human alpha-L-iduronidase deficiency.
    Spellacy E, Shull RM, Constantopoulos G, Neufeld EF.
    Proc Natl Acad Sci U S A; 1983 Oct 24; 80(19):6091-5. PubMed ID: 6412235
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  • 29. 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 24; 10(5):463-75. PubMed ID: 4213328
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  • 30. Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: support for the hypothesis of allelic mutants.
    Fortuin JJ, Kleijer WJ.
    Hum Genet; 1980 Feb 24; 53(2):155-9. PubMed ID: 6766899
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  • 34. [Mucopolysaccharidosis I-S (Scheie's disease) (author's transl)].
    Luderschmidt C, Schill WB, Burg D, von Figura K, Hübner G, Pongratz D.
    Dtsch Med Wochenschr; 1979 Oct 19; 104(42):1482-7. PubMed ID: 115668
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  • 35. Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.
    Danes BS.
    J Med Genet; 1977 Oct 19; 14(5):346-51. PubMed ID: 412969
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  • 36. Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I.
    Haskins ME, Jezyk PF, Desnick RJ, McDonough SK, Patterson DF.
    Pediatr Res; 1979 Nov 19; 13(11):1294-7. PubMed ID: 117422
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  • 37. Hurler-Scheie phenotype: a report of two pairs of inbred sibs.
    Kaibara N, Eguchi M, Shibata K, Takagishi K.
    Hum Genet; 1979 Nov 19; 53(1):37-41. PubMed ID: 119701
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  • 39. White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.
    Barone R, Parano E, Trifiletti RR, Fiumara A, Pavone P.
    J Neurol Sci; 2002 Mar 30; 195(2):171-5. PubMed ID: 11897250
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