| Diseases | Rating | Bibliogr. | Expand |
|---|
| 1 | Brain Diseases, Metabolic, Inborn | 100 | + + | |
| 2 | Lysosomal Storage Diseases | 57 | + + | |
| 3 | Lipid Metabolism, Inborn Errors | 49 | + + | |
| 4 | Carbohydrate Metabolism, Inborn Errors | 20 | + + | |
| 5 | Metal Metabolism, Inborn Errors | 11 | + + | |
| 6 | Peroxisomal Disorders | 9 | + + | |
| 7 | Renal Tubular Transport, Inborn Errors | 4 | + + | |
| 8 | Amino Acid Transport Disorders, Inborn | 3 | + + | |
| 9 | Amino Acid Metabolism, Inborn Errors | 3 | + + | |
| 10 | Porphyrias | 2 | + + | |
| 11 | Amyloidosis, Familial | 1 | + + | |
| 12 | Purine-Pyrimidine Metabolism, Inborn Errors | 1 | + + | |