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Correction of combined β-galactosidase/neuraminidase deficiency in human fibroblasts

✍ Scribed by André Hoogeveen; Alessandra d'Azzo; Reinhard Brossmer; Hans Galjaard


Book ID
118315852
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
512 KB
Volume
103
Category
Article
ISSN
0006-291X

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The uptake and catabolism of [3H-ceramide]-GM1 was followed in living fibroblasts from patient with different forms of beta-galactosidase deficiency. Gangliosides are identified according to the nomenclature of Svennerholm (1963). A total inability to metabolize the ingested substrate was found in i