Claudio Spisni

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Anderson-Fabry disease (E C 3.2.1.22, MIM 301500) is an X linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA). 2 The onset of the disease and the severity of clinical manifestations depend principally on residual GLA enzymatic activity. Fabry disease can be classified into two clinical phenotypes: the classical(More)
Some neurophysiological techniques have been employed in clinical nephrology to record abnormalities of nervous conduction in central and peripheral pathways. The electrical monitoring on the peripheral and central nervous systems has allowed the detection of uremic neural injury, the diagnosis of specific electrophysiological abnormalities, the evaluation(More)
Various EPs have been employed to disclose even early-stage central and peripheral nervous system damage in uremia. This approach also gives the possibility to follow up alterations of many sensory functions during the sequential stages of uremia. Fifty-three subjects (35 male and 18 female, mean age 42.20 +/- 5.50 yrs, conventionally low nitrogen diet(More)
The side effects of glucose degradation products (GDPs) in conventional peritoneal dialysis (PD) fluids are well described. Using the three-compartment bag concept--that is, in situ preparation of concentrated glucose solution into a standard ionic solution--a GDP-free solution can be processed. To investigate the possible impact of this product on(More)
The clinical manifestations of neuropathy in chronic uraemia are late in occurring. However, at an early stage it is possible to detect damage to either the central or peripheral nervous system by means of modern electrophysiological investigation methods. We examined 29 patients with CRF (plasma creatinine 7.0 +/- 4.0 mg%) on conservative diet. The(More)
PURPOSE To optimize the technique for radiographic studies of bone and joint damage in renal osteodystrophy. MATERIAL AND METHODS Sixty-four patients with chronic renal failure on dialysis for 0-10 years, were divided into two homogeneous groups and submitted to two different radiographic examinations of the nondominant hand. Group A patients were(More)