| Malattie | Valutazione | Bibliogr. | Precisare | |
|---|---|---|---|---|
| 1 | Malattia Da Sciroppo D'Acero | 100 | + | |
| 2 | Albinismo | 10 | + | |
| 3 | Alkaptonuria | 8 | + | |
| 4 | Urea Cycle Disorders, Inborn | 6 | + | |
| 5 | Hyperhomocysteinemia | 6 | + | |
| 6 | Tirosinemie | 5 | + | |
| 7 | Fenilchetonurie | 5 | + | |
| 8 | Carenza Multipla Di Carbossilasi | 3 | + | |
| 9 | Propionic Acidemia | 2 | + | |
| 10 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 2 | + |