Evaluation of the accuracy of enzymatically determined carrier status for Krabbe disease by DNA-based testing.
Division of Laboratory Medicine and Memorial University of NF, The General Hospital, Health Sciences Centre Site, St. John's, Newfoundland, Canada. erandell@morgan.ucs.mun.ca
E
E
Randell
M
M
Connolly-Wilson
A
A
Duff
M A
MA
Skomorowski
J
J
Callahan
D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005069:Evaluation Studies as Topic; D005260:Female; D005698:Galactosylceramidase / Q000235:genetics* / Q000378:metabolism*; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D007962:Leukocytes; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012588:Scintillation Counting
D005698:Galactosylceramidase