Encontrado 1 documento, a visualizar página 1 de 1
Ordenado por
Data
ir para a página:
1
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic ep...
Balreira, A.; Gaspar, P.; Caiola, D.; Chaves, J.; Beirão, I.; Lima, J.; Azevedo, J.; Miranda, M.Abstract The main clinical features of two siblings from a consanguineous marriage were progressive myoclonic epilepsy without intellectual impairment and a nephrotic syndrome with a strong accumulation of C1q in capillary loops and mesangium of kidney. The biochemical analysis of one of the patients revealed a normal beta-glucocerebrosidase activity in leukocytes, but a severe enzymatic deficiency in cultured ...
Data: 2008
|
Origem: Repositório Científico do Centro Hospitalar do Porto
| Financiadores do RCAAP | |||||||
|
|
|
|
|
|
||