| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Lysosomala upplagringssjukdomar, nervsystemet | 100 | + | |
| 2 | MELAS-syndrom | 47 | + | |
| 3 | 28 | + | ||
| 4 | MERRF-syndrom | 28 | + | |
| 5 | Leighs sjukdom | 28 | + | |
| 6 | Urea Cycle Disorders, Inborn | 21 | + | |
| 7 | Peroxisomala sjukdomar | 19 | + | |
| 8 | Fenylketonuri | 11 | + | |
| 9 | Homocystinuri | 10 | + | |
| 10 | Hepatolentikulär degeneration | 8 | + | |
| 11 | Lesch-Nyhans syndrom | 8 | + | |
| 12 | Galaktosemier | 6 | + | |
| 13 | Tyrosinemier | 5 | + | |
| 14 | Okulocerebrorenalt syndrom | 4 | + | |
| 15 | Pyruvatdehydrogenasbrist | 4 | + | |
| 16 | Lönnsirapssjuka | 4 | + | |
| 17 | Menkes Kinky hair-syndrom | 2 | + |