Objects
Pisciotta, Livia, Tozzi, Giulia, Vora, Komal, Nightingale, Scott, Michelakakis, Helen, Garoufi, Anastasia, Lykopoulou, Lilia, Bertolini, Stefano, Calandra, Sebastiano, Travaglini, Lorena, Taurisano, Roberta, Lucchi, Tiziano, Indolfi, Giuseppe, Papadia, Francesco, Di Rocco, Maja, D'Antiga, Lorenzo, Crock, Patricia. Elsevier; 2017. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.