权威例句
Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase componentMouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolismSimultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeresDramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff DiseasesPrevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycinBacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay|[ndash]|Sachs diseaseTay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation a...Dynamic mapping of human cortical development during child-hood and adolescence