| Autor: |
Søvik, O., Lie, S., Fluge, G., Hoof, F., Søvik, O, Lie, S O, Van Hoof, F |
| Zdroj: |
European Journal of Pediatrics; 1980, Vol. 135 Issue 2, p211-216, 6p |
| Abstrakt: |
A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of alpha-fucosidase was demonstrated in liver, tears, urine, sediment, and cultured fibroblasts. We conclude that severe deficiency or complete absence of alpha-fucosidase does not by itself preclude survival to adult age. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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