| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Lysosomal Storage Diseases, Nervous System | 100 | + + | |
| 2 | Urea Cycle Disorders, Inborn | 81 | + + | |
| 3 | Phenylketonurias | 30 | + + | |
| 4 | Hereditary Central Nervous System Demyelinating Diseases | 26 | + + | |
| 5 | Hepatolenticular Degeneration | 23 | + + | |
| 6 | Hyperglycinemia, Nonketotic | 18 | + + | |
| 7 | Tyrosinemias | 16 | + + | |
| 8 | Galactosemias | 15 | + + | |
| 9 | Leigh Disease | 14 | + + | |
| 10 | Homocystinuria | 13 | + + | |
| 11 | Lesch-Nyhan Syndrome | 11 | + + | |
| 12 | Menkes Kinky Hair Syndrome | 10 | + + | |
| 13 | MELAS Syndrome | 8 | + + |