| Autor: |
van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA |
| Jazyk: |
angličtina |
| Zdroj: |
Clinical genetics [Clin Genet] 1981 Aug; Vol. 20 (2), pp. 152-60. |
| DOI: |
10.1111/j.1399-0004.1981.tb01821.x |
| Abstrakt: |
A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease) revealed both intertype and intratype variability. The course of the disease was relatively mild in Sanfilippo B disease and dementia was less severe. Type A showed earlier onset with more severe clinical manifestations and an earlier age at death. Sanfilippo C disease was slightly less severe than Sanfilippo A disease. The intratype variability may be explained in part by differences in genetic and environmental background. In Sanfilippo B disease, genetic heterogeneity is suggested by the observation of a more severe and a mild variant, and this variation may be due to the involvement of different allelic mutations. The intrafamilial variability of the different types was small, but in three families with Sanfilippo B disease intrafamilial variability was evident. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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