Kudoh, T

Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. [electronic resource] - The Journal of clinical investigation Jul 1982 - 89-97 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

0021-9738

10.1172/jci110607 doi


Amidohydrolases--deficiency
Cells, Cultured
Ceramidases
Cerebrosides
Fatty Acids--metabolism
Fibroblasts--metabolism
Galactosylceramides--deficiency
Genetic Carrier Screening
Humans
Lactose Intolerance--diagnosis
Lactosylceramides--deficiency
Leukodystrophy, Globoid Cell--diagnosis
Leukodystrophy, Metachromatic--diagnosis
Lysosomes--enzymology
Sphingolipidoses--diagnosis