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Human Molecular Genetics|August 7, 2001
Enzyme therapy for lysosomal acid lipase deficiency in the mouseH Du, S Schiavi, M Levine, et al.
Biochimica Et Biophysica Acta|September 29, 1993
Synthesis and use of novel fluorescent glycosphingolipids for estimating beta-glucosidase activity in vitro in the absence of detergents and subtyping Gaucher disease variants following administration into intact cellsV Agmon, S Cherbu, A Dagan, et al.
Biochimica Et Biophysica Acta|September 2, 1987
Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sitesK Osiecki-Newman, D Fabbro, G Legler, et al.
The American Journal of Pathology|May 11, 1999
Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturationE Ponce, D P Witte, R Hirschhorn, et al.
American Journal of Human Genetics|June 1, 1993
Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implicationsA Sibille, C M Eng, S J Kim, et al.
Clinical Genetics|May 1, 1985
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variantsO Nilsson, G A Grabowski, M D Ludman, et al.
American Heart Journal|December 1, 1980
The M-mode echocardiogram in Fabry's diseaseJ L Bass, S Shrivastava, G A Grabowski, et al.
Progress in Clinical and Biological Research|January 1, 1982
Gaucher disease: a membranous enzymopathyR J Desnick, G A Grabowski, T Dinur, et al.
Metabolism: Clinical and Experimental|March 1, 1988
Abnormalities in lipoprotein metabolism in Gaucher type 1 diseaseN A Le, J C Gibson, A Rubinstein, et al.
The Journal of Biological Chemistry|January 21, 1994
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expressionM E Grace, K M Newman, V Scheinker, et al.
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