Literature DB >> 10913522

Evaluation of the accuracy of enzymatically determined carrier status for Krabbe disease by DNA-based testing.

E Randell1, M Connolly-Wilson, A Duff, M A Skomorowski, J Callahan.   

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Year:  2000        PMID： 10913522     DOI： 10.1016/s0009-9120(00)00054-0

Source DB:  PubMed          Journal:  Clin Biochem        ISSN： 0009-9120            Impact factor:   3.281


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  1 in total

1.  Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.

Authors:  S Raghavan; B Zeng; P A Torres; G M Pastores; E H Kolodny; J Kurtzberg; W Krivit
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982
  1 in total

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