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2 result(s) for 'author#"Vincenza Carbone"' within BMC

1. A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)

   Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused...

   Authors: Luisa Santangelo, Maddalena Gigante, Giuseppe Stefano Netti, Sterpeta Diella, Flora Puteo, Vincenza Carbone, Giuseppe Grandaliano, Mario Giordano and Loreto Gesualdo

   Citation: BMC Nephrology 2014 15:41

   Content type: Case report

   Published on: 3 March 2014

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2. Peripheral nervous system manifestations of Shiga toxin-producing E. coli-induced haemolytic uremic syndrome in children

   The Neurological involvement is the most common extra-renal complication of Shiga toxin-producing E. coli-hemolytic uremic syndrome (HUS) or typical HUS. On brain magnetic resonance examination, main neurological...

   Authors: Luisa Santangelo, Giuseppe Stefano Netti, Diletta Domenica Torres, Giovanni Piscopo, Vincenza Carbone, Luciana Losito, Leonardo Milella, Maria Luigia Lasorella, Pasquale Conti, Delio Gagliardi, Maria Chironna, Federica Spadaccino, Elena Bresin, Antonio Trabacca, Elena Ranieri and Mario Giordano

   Citation: Italian Journal of Pediatrics 2021 47:181

   Content type: Case report

   Published on: 6 September 2021

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