| Autor: |
Thomas, George H., Taylor, Harold A., Reynolds, Linda W., Miller, Carol S. |
| Zdroj: |
Pediatric Research (Ovid); September 1973, Vol. 7 Issue: 9 p751-756, 6p |
| Abstrakt: |
Four patients with the clinical findings of mucolipidosis III were studied. Cultured skin fibroblast cells from three of these four patients were low in each of the five lysosomal enzyme activities measured. The ranges of the enzyme activities in these three patients were as follows: N-acetyl-β-glucosaminidase (11–19 of normal), β-galactosidase (26–33 of normal), α-fucosidase (31–55 of normal), α-mannosidase (53–62 of normal), and arylsulfatase A (16–21 of normal). |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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