| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 100 | + + | |
2 | Glucosephosphate Dehydrogenase Deficiency | 23 | + + | |
3 | Dihydropyrimidine Dehydrogenase Deficiency | 16 | + + | |
4 | Lipid Metabolism, Inborn Errors | 15 | + + | |
5 | Pyruvate Dehydrogenase Complex Deficiency Disease | 12 | + + | |
6 | Metabolism, Inborn Errors | 12 | + + | |
7 | Disease | 6 | + + | |
8 | Amino Acid Metabolism, Inborn Errors | 4 | + + | |
9 | Reye Syndrome | 4 | + + | |
10 | Deficiency Diseases | 4 | + + | |
11 | Muscular Diseases | 4 | + + | |
12 | Acidosis, Lactic | 4 | + + | |
13 | Favism | 3 | + + | |
14 | Hemolysis | 3 | + + | |
15 | Mitochondrial Diseases | 3 | + + | |
16 | Purine-Pyrimidine Metabolism, Inborn Errors | 3 | + + | |
17 | Acidosis | 3 | + + | |
18 | Sudden Infant Death | 3 | + + | |
19 | Anemia, Hemolytic | 3 | + + | |
20 | Brain Diseases, Metabolic, Inborn | 3 | + + | |
21 | Hypoglycemia | 3 | + + | |
22 | Metabolic Diseases | 2 | + + | |
23 | Rhabdomyolysis | 2 | + + | |
24 | Leigh Disease | 2 | + + | |
25 | Vitamin B 12 Deficiency | 2 | + + | |
26 | Mitochondrial Myopathies | 2 | + + | |
27 | Brain Diseases, Metabolic | 2 | + + | |
28 | Muscle Hypotonia | 2 | + + | |
29 | alpha 1-Antitrypsin Deficiency | 1 | + + | |
30 | IgA Deficiency | 1 | + + | |
31 | Ketosis | 1 | + + | |
32 | Seizures | 1 | + + | |
33 | Fatty Liver | 1 | + + | |
34 | Myoglobinuria | 1 | + + | |
35 | Hyperbilirubinemia | 1 | + + | |
36 | Adrenal Hyperplasia, Congenital | 1 | + + | |
37 | Cardiomyopathies | 1 | + + | |
38 | Protein C Deficiency | 1 | + + | |
39 | Anemia, Hemolytic, Congenital | 1 | + + | |
40 | Kernicterus | 1 | + + | |
41 | Mitochondrial Encephalomyopathies | 1 | + + | |
42 | Muscle Weakness | 1 | + + | |
43 | Disorders of Sex Development | 1 | + + | |
44 | Cytochrome-c Oxidase Deficiency | 1 | + + | |
45 | Hirsutism | 1 | + + | |
46 | Protein S Deficiency | 1 | + + | |
47 | Cerebellar Ataxia | 1 | + + | |
48 | Jaundice, Neonatal | 1 | + + | |
49 | Hepatitis A | 1 | + + | |
50 | Peroxisomal Disorders | 1 | + + | |
51 | Maple Syrup Urine Disease | 1 | + + | |
52 | Factor VII Deficiency | 1 | + + | |
53 | Immunologic Deficiency Syndromes | 1 | + + | |
54 | Genetic Predisposition to Disease | 1 | + + | |
55 | Vitamin A Deficiency | 1 | + + | |
56 | Diseases in Twins | 1 | + + | |
57 | Anemia, Hemolytic, Congenital Nonspherocytic | 1 | + + | |
58 | Pyruvate Metabolism, Inborn Errors | 1 | + + | |
59 | Methemoglobinemia | 1 | + + | |
60 | IgG Deficiency | 1 | + + | |
61 | Developmental Disabilities | 1 | + + | |
62 | Psychomotor Disorders | 1 | + + | |
63 | Factor XI Deficiency | 1 | + + | |
64 | Vitamin D Deficiency | 1 | + + | |
65 | Factor X Deficiency | 1 | + + | |
66 | Spherocytosis, Hereditary | 1 | + + | |
67 | Gangliosidosis, GM1 | 1 | + + | |
68 | Kearns-Sayre Syndrome | 1 | + + | |
69 | Spasms, Infantile | 1 | + + | |
70 | Folic Acid Deficiency | 1 | + + | |
71 | Antithrombin III Deficiency | 1 | + + | |
72 | Movement Disorders | 1 | + + | |