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
- Creator: 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
- Resource Type: journal article
- Date: 2017
A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease
- Creator: Hooper, Amanda J. , Tran, Huy A. , Formby, Mark R. , Burnett, John R.
- Resource Type: journal article
- Date: 2008