Sjukdomar | Betyg | Bibliogr. | Expandera | |
---|---|---|---|---|
1 | Lysosomala upplagringssjukdomar, nervsystemet | 100 | + | |
2 | 86 | + | ||
3 | Urea Cycle Disorders, Inborn | 24 | + | |
4 | Peroxisomala sjukdomar | 23 | + | |
5 | Leighs sjukdom | 23 | + | |
6 | Menkes Kinky hair-syndrom | 19 | + | |
7 | Hepatolentikulär degeneration | 16 | + | |
8 | Fenylketonuri | 11 | + | |
9 | Hyperglykemi, icke-ketotisk | 10 | + | |
10 | Pyruvatdehydrogenasbrist | 6 | + | |
11 | Cerebral amyloid angiopati, familjär | 5 | + | |
12 | Homocystinuri | 4 | + | |
13 | Lönnsirapssjuka | 4 | + | |
14 | Pyruvatkarboxylasbristsjukom | 4 | + | |
15 | Lesch-Nyhans syndrom | 4 | + | |
16 | Tyrosinemier | 4 | + | |
17 | Galaktosemier | 3 | + | |
18 | Okulocerebrorenalt syndrom | 3 | + | |
19 | MERRF-syndrom | 2 | + |