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Department Of Clinical Genetics Meiji Pharmaceutical University | 論文
- Structural study on mutant α-L-iduronidases : insight into mucopolysaccharidosis type I
- Structural basis of neuronal ceroid lipofuscinosis 1
- Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI
- Fabry-database.org : database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease
- Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones
- Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease
- Structural bases of GM1 gangliosidosis and Morquio B disease
- Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information