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Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on its prevalence has been reported in the literature. The overall birth prevalence of the 29 different LSDs studied in the Portuguese population was calculated to be 25/100000 live births, twice the prevalence previously described in(More)
OBJECTIVE In the present study we evaluated the effect of exercise on the plasma levels of proinflammatory cytokines, interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha), and the anti-inflammatory molecule uric acid in the Zucker diabetic fatty (ZDF) rats that are more prone to develop type 2 diabetes mellitus. METHODS Sixteen obese ZDF (Gmi(More)
We report the study of 16 catholic type 1 Gaucher disease patients originating from a well-defined region in the north of Portugal where a relatively high incidence is observed. The patients were screened for mutations: 3060G-->A, 5841A-->G, 5976C-->G, and 6433T-->C, which enabled the identification of 27 of the 32 mutated alleles. Four different genotypes(More)
Most newly synthesized peroxisomal matrix proteins are targeted to the organelle by Pex5p, the peroxisomal cycling receptor. According to current models of peroxisomal biogenesis, Pex5p interacts with cargo proteins in the cytosol and transports them to the peroxisomal membrane. After delivering the passenger protein into the peroxisomal matrix, Pex5p(More)
Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to feedback inhibit UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. We now describe the fifth patient in the world with sialuria, a 7-year-old Portuguese girl with developmental delay, hepatomegaly, coarse(More)
Because non-compliance with antipsychotic drug therapy is both common and associated with a substantially increased risk of acute relapse, depot medication must be preferred for most schizophrenic out-patients. Yet there is a perception that depot medication is unpopular among patients. In the survey of out-patients reported here, the great majority of(More)
In the Portuguese population the most frequent form of Gaucher disease is type 1. The N370S glucocerebrosidase gene mutation accounts for 63% of mutated alleles. The frequency of this mutation was accurately determined in the Portuguese population, which does not present an Ashkenazi Jewish genetic background. A gene frequency of 0.0043, with 95% confidence(More)
Synovial cysts of the cervical spine are rare. These lesions have been associated with other spinal conditions as osteoarthritis, spondylolisthesis, and disc degeneration, with authors postulating a possible link with segmental spinal instability. This study aims to describe an atypically presenting case of a cervical synovial cyst. A 65-year-old man(More)
The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast function, resulting in osteopenia and also osteonecrosis. T lymphocytes have recently been found to be involved in the regulation of osteoblast/osteoclast activity in vitro. In the present report the peripheral blood T major lymphocyte subsets were(More)