Encontrados 4 documentos, a visualizar página 1 de 1
Cattle production in agroforestry systems. An analysis on the role of intensifi...
Escribano, A.J.; Gaspar, P.; Mesias, F.J.; Rosas, J.P.; Escribano, M.Poster
Environmental, economic and social indicators of rural development in agrofores...
Escribano, A.J.; Gaspar, P.; Mesias, F.J.; Pulido, A.F.; Escribano, M.Poster
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 ...
Arylsulfatase A pseudodeficiency in healthy Brazilian individuals
Pedron,C.G.; Gaspar,P.A.; Giugliani,R.; Pereira,M.L.S.Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<FONT FACE="Symbol">®</font>G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The indiv...
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