Differences in outcomes between early and late diagnosis of cystic fibrosis in the newborn screening era
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
- 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
- Nightingale, Scott, Stormon, Michael O., Kamath, Binita M., Fecteau, Annie, Langer, Jacob C., Roberts, Eve A., Ling, Simon C., Ng, Vicky L., O'Loughlin, Edward V., Shun, Albert, Thomas, Gordon, Benchimol, Eric I., Day, Andrew S., Adams, Susan, Shi, Edward, Ooi, Chee Y.
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