| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Urea Cycle Disorders, Inborn | 100 | + | |
| 2 | Homocystinuri | 56 | + | |
| 3 | Lysosomala upplagringssjukdomar, nervsystemet | 42 | + | |
| 4 | Lesch-Nyhans syndrom | 33 | + | |
| 5 | Hyperglykemi, icke-ketotisk | 25 | + | |
| 6 | Fenylketonuri | 21 | + | |
| 7 | Menkes Kinky hair-syndrom | 20 | + | |
| 8 | Tyrosinemier | 20 | + | |
| 9 | Lönnsirapssjuka | 19 | + | |
| 10 | Hepatolentikulär degeneration | 14 | + | |
| 11 | Peroxisomala sjukdomar | 14 | + | |
| 12 | Galaktosemier | 8 | + | |
| 13 | 8 | + | ||
| 14 | MELAS-syndrom | 5 | + | |
| 15 | Leighs sjukdom | 4 | + | |
| 16 | Pyruvatdehydrogenasbrist | 4 | + | |
| 17 | Okulocerebrorenalt syndrom | 3 | + | |
| 18 | Pyruvatkarboxylasbristsjukom | 1 | + |