| Autor: |
Winder AF, Claringbold LJ, Jones RB, Jay BS, Rice NS, Kissun RD, Menzies IS, Mount JN |
| Jazyk: |
angličtina |
| Zdroj: |
Archives of disease in childhood [Arch Dis Child] 1983 May; Vol. 58 (5), pp. 362-6. |
| DOI: |
10.1136/adc.58.5.362 |
| Abstrakt: |
Minor and major deficiencies of enzymes affecting galactose metabolism may be associated with cataracts of early onset. Results are presented for 10 such families with minor enzymatic disorders. Expression of the major disorders probably involves galactitol accumulation and osmotic lens damage but this mechanism is not obviously associated with minor disorders. The observed incidence of minor incomplete enzymatic disorders of galactose metabolism in families with an incidence of cataracts of early onset may be at least partly incidental. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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