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Journal Abstract Search

134 related items for PubMed ID: 96404

  • 1. Hurler/Scheie phenotype. Report of an inbred sibship with tapeto-retinal degeneration and electron-microscopie examination of the conjuctiva.
    Jensen OA, Pedersen C, Schwartz M, Vestermark S, Warburg M.
    Ophthalmologica; 1978; 176(4):194-204. PubMed ID: 96404
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  • 5. Hurler-Scheie phenotype with parental consanguinity. Report of an additional case supporting the concept of genetic heterogeneity.
    Kaibara N, Katsuki I, Hotokebuchi T, Takagishi K, Kure T.
    Clin Orthop Relat Res; 1983 May; (175):233-6. PubMed ID: 6404579
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  • 9. Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.
    Fujibayashi S, Minami R, Ishikawa Y, Wagatsuma K, Nakao T, Tsugawa S.
    Hum Genet; 1984 May; 65(3):268-72. PubMed ID: 6421718
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  • 13. The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase.
    Bach G, Friedman R, Weissmann B, Neufeld EF.
    Proc Natl Acad Sci U S A; 1972 Aug; 69(8):2048-51. PubMed ID: 4262258
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  • 14. Absence of alpha-L-iduronidase activity in various tissues from two sibs affected with presumably the Hurler-Scheie compound syndrome.
    Thompson JN, Finley SC, Lorincz AE, Finley WH.
    Birth Defects Orig Artic Ser; 1975 Aug; 11(6):341-6. PubMed ID: 811284
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  • 15. [Corneal changes in Scheie disease. (Mucopolysaccharidosis type I S) (author's transl)].
    Tremblay M, Dube I, Gagne R.
    J Fr Ophtalmol; 1979 Mar; 2(3):193-7. PubMed ID: 156753
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  • 16. The mucopolysaccharidoses and mucolipidoses.
    Kelly TE.
    Clin Orthop Relat Res; 1976 Mar; (114):116-33. PubMed ID: 131015
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