Affiliation: | 1. UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genova, Italy;2. UOC Genetica Medica, Istituto Giannina Gaslini, Genova, Italy;3. Laboratory on Physiopathology of Uremia, Istituto Giannina Gaslini, Genova, Italy;4. Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy;5. Institute of Medical Genetics, School of Medicine, Cardiff University, UK |