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The present research is aimed at assessing the role of 3 estrogen receptor alpha (ESR1) gene variants in late onset Alzheimer's disease (AD) susceptibility. One thousand one hundred thirteen unrelated late onset sporadic AD patients, 1109 healthy controls and 121 neurologically healthy elderly controls were used to carry out case-control genetic association(More)
Hypouricaemia due to an isolated renal tubular defect is a rare condition. Several members from an affected family are described. The propositus is a 12-year-old girl with hypouricaemia (0.7–1.1 mg/dl) and increased fractional excretion of uric acid (50%). Pyrazinamide and sulphinpyrazone tests revealed an attenuated response in this subject to both drugs.(More)
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