论文信息 - Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component

Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component

Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D-N-acetylglucosaminidase and β-D-N-acetylgalactosaminidase activity, are present in human tissues. One of these, hexosaminidase component A, is absent in brain, liver, kidney, skin, cultured skin fibroblasts, blood plasma, and leukocytes from nine patients with Tay-Sachs disease. Hexosaminidase assay may facilitate the early diagnosis of individuals homozygous for Tay-Sachs disease.

J. O'brien | S. Okada

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