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Search: authors:"Roberto Colombo"

3 papers found.
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Determinants of weaning success in patients with prolonged mechanical ventilation

Colombo 0 Stefano Nava 2 0 Service of Clinical Engineering , Fondazione S. Maugeri, IRCCS, Via Maugeri 10, Pavia, 27100 , Italy 1 Department of Intensive Care Medicine, University Hospital of Heraklion

Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Background Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplets in most tissues. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS...