| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | 100 | + | ||
| 2 | Lysosomala upplagringssjukdomar, nervsystemet | 94 | + | |
| 3 | Peroxisomala sjukdomar | 89 | + | |
| 4 | Okulocerebrorenalt syndrom | 80 | + | |
| 5 | Fenylketonuri | 50 | + | |
| 6 | Lesch-Nyhans syndrom | 49 | + | |
| 7 | Homocystinuri | 32 | + | |
| 8 | Urea Cycle Disorders, Inborn | 30 | + | |
| 9 | Galaktosemier | 22 | + | |
| 10 | Pyruvatdehydrogenasbrist | 14 | + | |
| 11 | Hyperglykemi, icke-ketotisk | 13 | + | |
| 12 | Pyruvatkarboxylasbristsjukom | 12 | + | |
| 13 | Tyrosinemier | 11 | + | |
| 14 | Menkes Kinky hair-syndrom | 10 | + | |
| 15 | Lönnsirapssjuka | 10 | + | |
| 16 | Leighs sjukdom | 9 | + |