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Journal Abstract Search

126 related items for PubMed ID: 6780254

  • 1. Prenatal diagnosis of Gaucher disease. Assay of the beta-glucosidase activity in amniotic fluid cells cultivated in two laboratories with different cultivation conditions.
    Svennerholm L, Håkansson G, Lindsten J, Wahlström J, Dreborg S.
    Clin Genet; 1981 Jan; 19(1):16-22. PubMed ID: 6780254
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  • 4. Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (Type 3) of Gaucher disease.
    Svennerholm L, Håkansson G, Dreborg S.
    Clin Chim Acta; 1980 Sep 25; 106(2):183-93. PubMed ID: 6773705
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  • 5. Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.
    Fensom AH, Benson PF, Blunt S, Brown SP, Coltart TM.
    J Med Genet; 1976 Apr 25; 13(2):148-9. PubMed ID: 1064728
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  • 6. [Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies].
    Guibaud P, Maire I, Vanier MT, Mathieu M, Gilly J, Larbre F.
    Arch Fr Pediatr; 1978 Nov 25; 35(9):949-62. PubMed ID: 106802
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  • 7. Gaucher's disease II. Studies on the kinetics of beta-glucosidase and the effects of sodium taurocholate in normal and Gaucher tissues.
    Choy FY, Davidson RG.
    Pediatr Res; 1980 Jan 25; 14(1):54-9. PubMed ID: 6767218
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  • 9. Soluble and membranous neutral beta-glucosidases.
    Ben-Yoseph Y, Nadler HL.
    Prog Clin Biol Res; 1982 Jan 25; 95():465-80. PubMed ID: 6812082
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  • 13. Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects.
    Sarfati R, Hubert A, Dugué-Maréchaud M, Biran-Mucignat V, Pierre F, Bonneau D.
    Prenat Diagn; 2000 Apr 25; 20(4):340-3. PubMed ID: 10740209
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  • 14. Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis.
    Grabowski GA, Dinur T, Gatt S, Desnick RJ.
    Prog Clin Biol Res; 1982 Apr 25; 95():573-95. PubMed ID: 6812087
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  • 15. Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates.
    Chazan S, Zitman D, Klibansky C.
    Clin Chim Acta; 1978 May 16; 86(1):45-9. PubMed ID: 207472
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  • 18. [Reality of prenatal diagnosis].
    Owada M.
    Rinsho Byori; 1985 Nov 16; 33 Spec No 65():140-9. PubMed ID: 3937921
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  • 19. A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease).
    Blau K.
    J Inherit Metab Dis; 1978 Nov 16; 1(3):85-8. PubMed ID: 116083
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  • 20. Two alpha-glucosidases in cultured amniotic fluid cells and their differentiation in the prenatal diagnosis of Pompe's disease.
    Fujimoto A, Fluharty AL, Stevens RL, Kihara H, Wilson MG.
    Clin Chim Acta; 1976 Apr 15; 68(2):177-86. PubMed ID: 4249
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