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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

396 related items for PubMed ID: 131015

  • 21. Rapid identification of San Filippo disease (MPS III).
    Kelly S, Schedlbauer L, Leikhim E.
    Health Lab Sci; 1978 Jul; 15(3):123-7. PubMed ID: 151669
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  • 22. A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome.
    Whitley CB, Gorlin RJ, Krivit W.
    Am J Med Genet; 1987 Sep; 28(1):233-43. PubMed ID: 3118714
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  • 23. Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII.
    Sheridan O, Wortman J, Harvey C, Hayden J, Haskins M.
    J Craniofac Genet Dev Biol; 1994 Sep; 14(1):7-15. PubMed ID: 8006122
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  • 24. Combined Hurler and Sanfilippo syndrome in a sibling pair.
    Sun A, Hopwood JJ, Thompson J, Cederbaum SD.
    Mol Genet Metab; 2011 Jun; 103(2):135-7. PubMed ID: 21393040
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  • 30. [Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].
    Poupetová H, Ledvinová J, Chudoba D, Hrebícek M, Kozich V, Macek M, Elleder M.
    Cas Lek Cesk; 2000 Aug 02; 139(15):468-74. PubMed ID: 22666927
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  • 32. [Use of lysosome enzymes in genetic counseling].
    Krasnopol'skaia KD, Aronovich EL, Terekhov SM.
    Vopr Med Khim; 1982 Aug 02; 28(3):50-5. PubMed ID: 6808765
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  • 33. [Mucopolysaccharidoses].
    Kopyść Z, Gura C, Ryzko J.
    Pediatr Pol; 1976 Jun 02; 51(6):735-47. PubMed ID: 821035
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  • 35. [Mucopolysaccharidoses in children. Experience of a general pediatric service. 11 cases].
    Chaabouni M, Ben Slimen M, Boudawara M, Ben Amar H, Mahfoudh A, Ayadi F, Ben Halima N, Hachicha M, Karaay A, Triki A.
    Tunis Med; 2001 Apr 02; 79(4):222-30. PubMed ID: 11515481
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  • 37. 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 02; (175):233-6. PubMed ID: 6404579
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  • 38. 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 May 02; 176(4):194-204. PubMed ID: 96404
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  • 39. Biochemical discrimination of Hurler and Scheie syndromes.
    Hopwood JJ, Muller V.
    Clin Sci (Lond); 1979 Sep 02; 57(3):265-72. PubMed ID: 38945
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  • 40. 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 02; 53(2):155-9. PubMed ID: 6766899
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