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Journal Abstract Search

142 related items for PubMed ID: 4211797

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  • 2. [Prenatal diagnosis of enzyme defects illustrated by a case of angiokeratoma corporis diffusum (Fabry's disease)].
    Sorensen SA, Hahnemann N, Mohr J.
    Ugeskr Laeger; 1974 Jul 15; 136(29):1636-9. PubMed ID: 4210817
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  • 5. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
    Romeo G, Migeon BR.
    Science; 1970 Oct 09; 170(3954):180-1. PubMed ID: 5466114
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  • 6. Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.
    Farrell DF, Percy AK, Kaback MM, McKhann GM.
    Am J Hum Genet; 1973 Nov 09; 25(6):604-9. PubMed ID: 4773478
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  • 8. [Present possibilities of prenatal diagnosis of Fabry's disease].
    Santavý J, Santavá A, Simek I, Macák J, Dusek J.
    Cesk Pediatr; 1992 Nov 09; 47(11):641-4. PubMed ID: 1483271
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  • 9. A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies.
    Hasholt L, Sørensen SA.
    Clin Chim Acta; 1984 Sep 29; 142(2):257-61. PubMed ID: 6094040
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  • 13. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease.
    Mayes JS, Scheerer JB, Sifers RN, Donaldson ML.
    Clin Chim Acta; 1981 May 05; 112(2):247-51. PubMed ID: 6263521
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  • 16. Intrauterine diagnosis: comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells.
    Kaback MM, Leonard CO, Parmley TH.
    Pediatr Res; 1971 Aug 05; 5(8):366-71. PubMed ID: 5146085
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  • 17. Hair root analysis in heterozygotes for Fabry's disease.
    Ejiofor A, Robinson D, Wise D, Hamers MN, Tager JM.
    Adv Exp Med Biol; 1978 Aug 05; 101():719-25. PubMed ID: 208370
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