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Journal Abstract Search

161 related items for PubMed ID: 17489

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  • 2. Use of a chromogenic substrate for the diagnosis of Krabbe's disease, with special reference to its application in prenatal diagnosis.
    Besley GT, Bain AD.
    Clin Chim Acta; 1978 Sep 01; 88(2):229-36. PubMed ID: 699319
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  • 6. Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease.
    Wiederschain G, Raghavan S, Kolodny E.
    Clin Chim Acta; 1992 Jan 31; 205(1-2):87-96. PubMed ID: 1521344
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  • 10. A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.
    Gal AE, Brady RO, Hibbert SR, Pentchev PG.
    N Engl J Med; 1975 Sep 25; 293(13):632-6. PubMed ID: 239343
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  • 11. Isoelectric focusing of galactosylceramide beta-galactosylceramide beta-galactosidase in cultured skin fibroblasts of patients with Krabbe's globoid-cell leucodystrophy.
    Besley GT.
    Biochem Soc Trans; 1975 Sep 25; 3(2):241-4. PubMed ID: 1132549
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  • 13. [Biochemical diagnosis of globoid cell leukodystrophy (Krabbe's disease)].
    Tsvetkova IV, Zolotukhina TV, Rozenfel'd RA.
    Vopr Med Khim; 1985 Sep 25; 31(2):128-30. PubMed ID: 2860752
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  • 14. Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells.
    Svennerholm L, Häkansson G, Vanier MT.
    Acta Paediatr Scand; 1975 Jul 25; 64(4):649-56. PubMed ID: 1155085
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  • 15. Human brain cerebroside beta-galactosidase: deficiency of transgalactosidic activity in Krabbe's disease.
    Carter TP, Beblowski DW, Savage MH, Kanfer JN.
    J Neurochem; 1980 Jan 25; 34(1):189-96. PubMed ID: 6778958
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  • 18. Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe's disease.
    Tsutsumi O, Satoh K, Sakamoto S, Suzuki Y, Kato T.
    Clin Chim Acta; 1982 Nov 10; 125(3):265-73. PubMed ID: 7172437
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  • 19. Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis.
    Tanaka H, Suzuki K.
    Clin Chim Acta; 1977 Mar 01; 75(2):267-74. PubMed ID: 403037
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  • 20. Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies.
    Harzer K, Hager HD, Tariverdian G.
    Hum Genet; 1987 Dec 01; 77(4):342-4. PubMed ID: 3692478
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