スポンサーリンク
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science | 論文
- Accumulation of cholesterol and G_ ganglioside in cells cultured in the presence of progesterone:an implication for the basic defect in Niemann-Pick disease typc C
- Microbial Serine Carboxypeptidase Inhibitors : Comparative Analysis of Actions on Homologous Enzymes Derived from Man, Yeast and Wheat
- Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes
- Molecular and structural studies of Japanese patients with sialidosis type 1
- Expression of the Cholera Toxin B Subunit in the Golgi Apparatus of Swiss 3T3 Cells Inhibits DNA Synthesis Induced by Basic Fibroblast Growth Factor
- Structural basis of the GM2 gangliosidosis B variant
- Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice
- Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder
- Uptake of a Recombinant Human α-L-Iduronidase (laronidase) by Cultured Fibroblasts and Osteoblasts(Molecular and Cell Biology)
- Establishment of immortalized Schwann cells from Fabry mice and their low uptake of recombinant α-galactosidase
- Corrective effect on Fabry mice of yeast recombinant human α-galactosidase with N-linked sugar chains suitable for lysosomal delivery
- Localization of Cathepsins B, D, L, LAMP-1 and μ-Calpain in Developing Hair Follicles
- Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase"
- Three dimensional structural studies of α-N-acetylgalactosaminidase (α-NAGA) in α-NAGA deficiency (Kanzaki disease) : different gene mutations cause peculiar structural changes in α-NAGAs resulting in different substrate specificities and clinical phenoty
- II-C-21 Morphological analysis of the effects of enzyme replacement therapy for Fabry model mice(THE 45TH ANNUAL MEETING OF THE JAPAN SOCIETY OF HISTOCHEMISTRY AND CYTOCHEMISTRY)
- Structural and immunocytochemical studies on α-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease)
- Molecular and structural studies of the GM2 gangliosidosis O variant
- Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis
- Fabry disease in patients receiving maintenance dialysis
- High Incidence of Thrombosis in Fabry's Disease