| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Urea Cycle Disorders, Inborn | 100 | + + | |
| 2 | Lysosomal Storage Diseases, Nervous System | 37 | + + | |
| 3 | Maple Syrup Urine Disease | 37 | + + | |
| 4 | Phenylketonurias | 34 | + + | |
| 5 | Hartnup Disease | 27 | + + | |
| 6 | Hereditary Central Nervous System Demyelinating Diseases | 24 | + + | |
| 7 | Hyperglycinemia, Nonketotic | 22 | + + | |
| 8 | Peroxisomal Disorders | 5 | + + | |
| 9 | Menkes Kinky Hair Syndrome | 3 | + + | |
| 10 | Leigh Disease | 3 | + + | |
| 11 | Hepatolenticular Degeneration | 3 | + + | |
| 12 | Oculocerebrorenal Syndrome | 1 | + + | |
| 13 | MELAS Syndrome | 1 | + + |