| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Pyruvate Metabolism, Inborn Errors | 100 | + + | |
2 | Pyruvate Dehydrogenase Complex Deficiency Disease | 22 | + + | |
3 | Metabolism, Inborn Errors | 22 | + + | |
4 | Pyruvate Carboxylase Deficiency Disease | 16 | + + | |
5 | Amino Acid Metabolism, Inborn Errors | 9 | + + | |
6 | Carbohydrate Metabolism, Inborn Errors | 6 | + + | |
7 | Acidosis | 5 | + + | |
8 | Acidosis, Lactic | 5 | + + | |
9 | Disease | 4 | + + | |
10 | Lipid Metabolism, Inborn Errors | 4 | + + | |
11 | Purine-Pyrimidine Metabolism, Inborn Errors | 3 | + + | |
12 | Anemia, Hemolytic, Congenital | 3 | + + | |
13 | Leigh Disease | 3 | + + | |
14 | Metal Metabolism, Inborn Errors | 3 | + + | |
15 | Metabolic Diseases | 3 | + + | |
16 | Brain Diseases, Metabolic | 2 | + + | |
17 | Anemia, Hemolytic, Congenital Nonspherocytic | 2 | + + | |
18 | Homocystinuria | 2 | + + | |
19 | Refractive Errors | 2 | + + | |
20 | Steroid Metabolism, Inborn Errors | 2 | + + | |
21 | Anemia, Hemolytic | 2 | + + | |
22 | Psychomotor Disorders | 2 | + + | |
23 | Mitochondrial Diseases | 1 | + + | |
24 | Brain Diseases, Metabolic, Inborn | 1 | + + | |
25 | Encephalomalacia | 1 | + + | |
26 | Muscle Hypotonia | 1 | + + | |
27 | Ornithine Carbamoyltransferase Deficiency Disease | 1 | + + | |
28 | Hyperammonemia | 1 | + + | |
29 | Citrullinemia | 1 | + + | |
30 | Fructose Metabolism, Inborn Errors | 1 | + + | |
31 | Cytochrome-c Oxidase Deficiency | 1 | + + | |
32 | Hypophosphatasia | 1 | + + | |
33 | Lesch-Nyhan Syndrome | 1 | + + | |
34 | Fructose Intolerance | 1 | + + | |
35 | Hyperargininemia | 1 | + + | |
36 | Intellectual Disability | 1 | + + | |
37 | Diseases in Twins | 1 | + + | |
38 | Syndrome | 1 | + + | |
39 | Smith-Lemli-Opitz Syndrome | 1 | + + | |
40 | Central Nervous System Diseases | 1 | + + | |
41 | Hyperglycinemia, Nonketotic | 1 | + + | |
42 | Ketosis | 1 | + + | |