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Journal Abstract Search

224 related items for PubMed ID: 818927

  • 1. [Enzyme deficiencies detected on cultured fibroblasts and amniotic cells. Application to prenatal diagnosis].
    Dreyfus JC, Poenaru L.
    Ann Biol Clin (Paris); 1975; 33(6):465-72. PubMed ID: 818927
    [Abstract] [Full Text] [Related]

  • 2. [Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses].
    Dreyfus JC, Poenaru L.
    Arch Fr Pediatr; 1975; 32(6):503-14. PubMed ID: 810108
    [Abstract] [Full Text] [Related]

  • 3. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.
    Beratis NG, Turner BM, Weiss R, Hirschhorn K.
    Pediatr Res; 1975 May; 9(5):475-80. PubMed ID: 806052
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  • 4. Problems in the application of cell culture to human genetics.
    Davidson RG.
    Birth Defects Orig Artic Ser; 1974 May; 10(10):14-8. PubMed ID: 4618130
    [No Abstract] [Full Text] [Related]

  • 5. Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy.
    Hug G, Schubert WK, Soukup S.
    Birth Defects Orig Artic Ser; 1973 Mar; 9(2):160-83. PubMed ID: 4215475
    [No Abstract] [Full Text] [Related]

  • 6. Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency.
    van der Hagen CB, Borresen AL, Molne K, Oftedal G, Bjoro K, Berg K.
    Clin Genet; 1973 Mar; 4(3):256-9. PubMed ID: 4765208
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  • 11. Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I-cell disease).
    Huijing F, Warren RJ, McLeod AG.
    Clin Chim Acta; 1973 Mar 30; 44(3):453-5. PubMed ID: 4694487
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  • 12. [Peripheral metabolic neuropathies in genetically dependent lysosomal enzyme defects].
    Pilz H, Goebel HH, Argyrakis A, Hopf HC.
    Verh Dtsch Ges Inn Med; 1973 Mar 30; 83():1075-7. PubMed ID: 77096
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  • 14. Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.
    Aula P, Rapola J, von Koskull H, Ammälä P.
    Am J Med Genet; 1984 Oct 30; 19(2):359-67. PubMed ID: 6507482
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  • 18. Acid lipase in cultured fibroblasts: cholesterol ester storage disease.
    Beaudet AL, Lipson MH, Ferry GD, Nichols BL.
    J Lab Clin Med; 1974 Jul 30; 84(1):54-61. PubMed ID: 4833843
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  • 19. An appraisal of human trials in enzyme replacement therapy of genetic diseases.
    Tager JM, Hamers MN, Schram AW, Van den Bergh FA, Rietra PJ, Loonen C, Koster JF, Slee R.
    Birth Defects Orig Artic Ser; 1980 Jul 30; 16(1):343-59. PubMed ID: 6778527
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  • 20. [Prenatal diagnosis of lysosomal storage disease in the USSR].
    Mirenburg TV, Aronovich EL, Krasnopol'skaia KD, Lebedeva TV, Akhunov VS, Biriukov VB, Bakharev VA, Bartseva OB.
    Akush Ginekol (Mosk); 1991 Mar 30; (3):12-8. PubMed ID: 1905498
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