An animal model of human acid sphingomyelinase deficiency (Niemann-Pick disease) and the study of its enzyme replacement (the Japan Society of Human Genetics award lecture).
Kitagawa
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D000818:Animals; D016026:Bone Marrow Transplantation; D001921:Brain / Q000201:enzymology; D004195:Disease Models, Animal; D007525:Isoelectric Focusing; D008099:Liver / Q000201:enzymology; D051379:Mice; D008817:Mice, Mutant Strains; D009542:Niemann-Pick Diseases / Q000201:enzymology* / Q000628:therapy; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase