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Journal Abstract Search

269 related items for PubMed ID: 813180

  • 1. The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features.
    Stevenson RE, Howell RR, McKusick VA, Suskind R, Hanson JW, Elliott DE, Neufeld EF.
    Pediatrics; 1976 Jan; 57(1):111-22. PubMed ID: 813180
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  • 3. 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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  • 5. 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 May; 6(1):55-9. PubMed ID: 7550232
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  • 6. [Compound Hurler-Scheie disease in 3 siblings].
    Goldberg G, Grützner P.
    Klin Monbl Augenheilkd; 1985 Aug; 187(2):120-3. PubMed ID: 3932747
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  • 8. 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 Aug; 65(3):268-72. PubMed ID: 6421718
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  • 13. [Mucopolysaccharidosis type I in the Cuban population].
    Menéndez-Sainz C, Zaldívar-Muñoz C, González-Quevedo A.
    Rev Neurol; 1984 Aug; 37(6):525-8. PubMed ID: 14533069
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  • 14. [Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].
    Chkioua L, Khedhiri S, Jaidane Z, Ferchichi S, Habib S, Froissart R, Bonnet V, Chaabouni M, Dandana A, Jrad T, Limem H, Maire I, Abdelhedi M, Laradi S.
    Arch Pediatr; 2007 Oct; 14(10):1183-9. PubMed ID: 17728118
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  • 17. [Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)].
    Kovarik J, Vormittag W, Gebhart W, Ruthner U, Lubec G, Molzer B.
    Wien Klin Wochenschr; 1978 Dec 08; 90(23):839-44. PubMed ID: 154210
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  • 18. 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 Dec 08; 11(6):341-6. PubMed ID: 811284
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  • 20. The Hurler/Scheie phenotype in children from a consanguineous marriage: case report with electronmicroscopy of the conjunctiva and ERG.
    Jensen OA, Pedersen C, Vestermark S, Warburg M.
    Metab Pediatr Ophthalmol; 1980 Dec 08; 4(3):133-4. PubMed ID: 6779061
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