1. Telethon Institute of Genetics and Medicine (TIGEM), 80131 Naples, Italy.
2. Institute of Clinical Biochemistry and Laboratory Medicine, First Faculty of Medicine, Charles University, 120 00 Prague, Czech Republic.
3. University of California San Francisco (UCSF), San Francisco, CA 94143.
4. Medical Genetics, Department of Pediatrics, Federico II University of Naples, 80131 Naples, Italy.
5. Department of Pediatrics, Federico II University of Naples, 80131 Naples, Italy.
6. Fourth Department of Internal Medicine, First Faculty of Medicine, Charles University, 120 00 Prague, Czech Republic.