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Polarization Mode Dispersion Measurements using Low-Coherence Interferometry
Luís M. N. Amaral; O. Frazão; M. B. Marques; Mário Lima; António TeixeiraAn interferometric setup for measuring Polarization Mode Dispersion (PMD), was tested. It uses a low-coherence technique in a Michelson interferometer to determine the PMD values in two reels, measuring the Differential Group Delay (DGD). The low-coherence source bounds the minimum value of DGD detected to 0,13 ps, leading to a minimum value detected around 0,14 ps. The measured PMD mean value for one reel, in ...
Adult-onset neuronopathic form of Gaucher's disease: a case report
Guimarães, J.; Amaral, O.; Sá Miranda, M.C.We report a patient with Gaucher's disease (GD) developing prominent neurological abnormalities in adult life confirming the existence of an adult neuronopathic form of GD. In this adult-onset form, an akinetic-rigid syndrome poorly responsive to dopatherapy, supranuclear gaze palsy, myoclonic jerks, seizures, cerebellar ataxia, cognitive and psychotic disturbances are frequent manifestations. The widely used c...
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-g...
Diaz, G.A.; Gelb, B.D.; Risch, N.; Nygaard, T.G.; Frisch, A.; Cohen, I.J.; Miranda, C.S.; Amaral, O.; Maire, I.; Poenaru, L.; Caillaud, C.; Weizberg, M.Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase (GBA). Type 1 disease is panethnic but is more prevalent in individuals of Ashkenazi Jewish (AJ) descent. Of the causative GBA mutations, N370S is particularly frequent in the AJ population, (q approximately .03), whereas the 84GG insertion (q approximately .003) occurs exclu...
Gaucher disease: expression and characterization of mild and severe acid beta-g...
Amaral, O.; Marcão, A.; Sá Miranda, M.; Desnick, R.J.; Grace, M.E.Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid alpha-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid â-glucosidase mutations (F109V, W184R and R395P), as well as three previously reported, but uncharacterized, lesions (R359Q, G377S and N396T). The type 1 probands were either het...
T cell numbers relate to bone involvement in Gaucher disease
LACERDA, L.; AROSA, F.A.; LACERDA, R.; CABEDA, J.; PORTO, G.; AMARAL, O.; FORTUNA, A.; PINTO, R.; OLIVEIRA, P.; MCLAREN, C.E.; SA MIRANDA, C.Blood Cells Mol Dis. 1999 Apr;25(2):130-8. T cell numbers relate to bone involvement in Gaucher disease. Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Department of Genetics Neurobiology, Porto University, Portugal. Abstract The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast fu...
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