Use of a fluorogenic substrate, 6-hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranoside, in the diagnosis of Krabbe disease.
Grimm
U
U
Institute of Medical Genetics, University Greifswald, Germany.
Zschiesche
M
M
Widerschain
G
G
Seidlitz
G
G
Machill
G
G
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D005456:Fluorescent Dyes; D005697:Galactosides / Q000378:metabolism; D005698:Galactosylceramidase / Q000032:analysis* / Q000172:deficiency / Q000378:metabolism; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives* / Q000378:metabolism; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000201:enzymology
D005456:Fluorescent Dyes; D005697:Galactosides; D006923:Hymecromone; C047480:6-hexadecanoylamino-4-methylumbelliferyl-galactopyranoside; D005698:Galactosylceramidase