Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency.

Authors :: Hofman KJ
Naidu S
Moser HW
Maumenee IH
Wenger DA
Source :: Journal of inherited metabolic disease [J Inherit Metab Dis] 1987; Vol. 10 (3), pp. 273-4.
Publication Year :: 1987

Subjects :: Cells, Cultured
Electroretinography
Evoked Potentials, Visual
Female
Fibroblasts enzymology
Humans
Infant
Leukodystrophy, Globoid Cell physiopathology
Retina physiopathology
Galactosidases deficiency
Galactosylceramidase deficiency
Leukodystrophy, Globoid Cell pathology
Retina pathology

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