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PurposeNewborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false… Expand Tandem mass spectrometry has been used for determinations of enzyme activities in biological samples. Activities in rehydrated… Expand Galactosylcerebroside is known to be overexpressed upon the cellular surface of a variety of cancers. In squamous cell carcinomas… Expand Globoid cell leukodystrophy (Krabbe disease) is characterized by the accumulation of a toxic metabolite, psychosine… Expand BACKGROUND
Diagnosis of Niemann-Pick (A and B) and Krabbe diseases is achieved by measurement of the lysosomal enzymes acid… Expand Krabbe’s disease or globoid-cell leukodystrophy is an autosomal recessive disorder caused by a mutation of the galactocerebroside… Expand Galactocerebrosidase (GALC; EC 22.214.171.124) is a lysosomal enzyme which hydrolyzes several galactolipids and the deficiency of GALC… Expand Galactocerebrosidase (GALC, EC 126.96.36.199) was purified from human urine by a series of hydrophobic affinity column chromatography… Expand The neurological mouse mutant twitcher is characterized by a genetic deficiency of galactosylceramide beta-galactosidase… Expand Abstract A rapid and sensitive method was devised for determining β-galactosidase activity specific for galactocerebroside. A… Expand