| Maladies | Évaluation | Bibliogr. | Élargir | |
|---|---|---|---|---|
| 1 | Hyperhomocystéinémie | 100 | + | |
| 2 | Urea Cycle Disorders, Inborn | 63 | + | |
| 3 | Phénylcétonuries | 35 | + | |
| 4 | Hyperglycinémie Non Cétosique | 34 | + | |
| 5 | Déficit Multiple En Carboxylases | 32 | + | |
| 6 | Alcaptonurie | 29 | + | |
| 7 | Tyrosinémies | 29 | + | |
| 8 | Leucinose | 24 | + | |
| 9 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 18 | + | |
| 10 | Propionic Acidemia | 16 | + |