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Journal of Inherited Metabolic Disease|April 24, 2009
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell linesE R Benjamin, J J Flanagan, A Schilling, et al.Journal of Inherited Metabolic Disease|August 19, 2008
Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic controlA V Bernier, C P Sentner, C E Correia, et al.Journal of Inherited Metabolic Disease|October 23, 2008
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry diseaseI Rohard, E Schaefer, C Kampmann, et al.Journal of Inherited Metabolic Disease|January 7, 2009
Clinical and molecular features of mitochondrial DNA depletion syndromesA Spinazzola, F Invernizzi, F Carrara, et al.Journal of Inherited Metabolic Disease|January 8, 2009
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblastsS J Steinberg, A Snowden, N E Braverman, et al.Journal of Inherited Metabolic Disease|January 9, 2009
Pathogenic cascades in lysosomal disease-Why so complex?S U WalkleyJournal of Inherited Metabolic Disease|January 1, 1991
Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler diseaseI V Tsvetkova, E A Karpova, Y V Voznyi, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Neutral lipid storage disease with ichthyosis: serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophagesR Bergman, M Aviram, O Bitterman-Deutsch, et al.Journal of Inherited Metabolic Disease|December 20, 2008
Three-generational alkaptonuria in a non-consanguineous familyK Oexle, K Engel, S Tinschert, et al.Journal of Inherited Metabolic Disease|January 1, 1991
A specific fluorogenic assay for N-acetylgalactosamine-4-sulphatase activity using immunoadsorptionD A Brooks, G J Gibson, P A McCourt, et al.Pageof 429