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