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Journal Abstract Search

156 related items for PubMed ID: 119701

  • 1. Hurler-Scheie phenotype: a report of two pairs of inbred sibs.
    Kaibara N, Eguchi M, Shibata K, Takagishi K.
    Hum Genet; 1979; 53(1):37-41. PubMed ID: 119701
    [Abstract] [Full Text] [Related]

  • 2. [Compound Hurler-Scheie disease in 3 siblings].
    Goldberg G, Grützner P.
    Klin Monbl Augenheilkd; 1985 Aug; 187(2):120-3. PubMed ID: 3932747
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 53(2):155-9. PubMed ID: 6766899
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).
    Keith O, Scully C, Weidmann GM.
    Oral Surg Oral Med Oral Pathol; 1990 Jul; 70(1):70-4. PubMed ID: 2115154
    [Abstract] [Full Text] [Related]

  • 7. 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 Jul; 4(3):133-4. PubMed ID: 6779061
    [No Abstract] [Full Text] [Related]

  • 8. Hurler-Scheie phenotype associated with consanguinity.
    Davies DL, Dutton GN, Farquharson J, Logan RW, Tolmie JL.
    J Inherit Metab Dis; 1989 Jul; 12 Suppl 2():365-8. PubMed ID: 2512446
    [No Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. The clinical spectrum of alpha-L-iduronidase deficiency.
    Roubicek M, Gehler J, Spranger J.
    Am J Med Genet; 1985 Mar; 20(3):471-81. PubMed ID: 3922223
    [Abstract] [Full Text] [Related]

  • 11. Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.
    Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ben Turkia H, Miled A, Laradi S.
    Pathol Biol (Paris); 2009 Jul; 57(5):392-7. PubMed ID: 18584975
    [Abstract] [Full Text] [Related]

  • 12. 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 Jul; 176(4):194-204. PubMed ID: 96404
    [Abstract] [Full Text] [Related]

  • 13. [Psychotic symptoms during the evolution of dementia in muco- polysaccharidosis of Hurler-Scheie phenotype].
    Dugas M, Le Heuzey MF, Mayer M.
    Arch Fr Pediatr; 1985 May; 42(5):373-5. PubMed ID: 3935090
    [Abstract] [Full Text] [Related]

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  • 15. Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
    Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP.
    Am J Hum Genet; 1993 Nov; 53(5):973-86. PubMed ID: 8213840
    [Abstract] [Full Text] [Related]

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  • 17. 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 Nov; 11(6):341-6. PubMed ID: 811284
    [No Abstract] [Full Text] [Related]

  • 18. Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.
    Delgado Luengo WN, Miranda Contreras LE, Chávez CJ, Solis-Añez E, Cammarata-Scalisi F.
    Invest Clin; 2014 Dec; 55(4):365-70. PubMed ID: 25558755
    [Abstract] [Full Text] [Related]

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  • 20. Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
    Laradi S, Tukel T, Erazo M, Shabbeer J, Chkioua L, Khedhiri S, Ferchichi S, Chaabouni M, Miled A, Desnick RJ.
    J Inherit Metab Dis; 2005 Dec; 28(6):1019-26. PubMed ID: 16435195
    [Abstract] [Full Text] [Related]

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