| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Metabolism, Inborn Errors | 100 | + + | |
2 | Amino Acid Metabolism, Inborn Errors | 47 | + + | |
3 | Lipid Metabolism, Inborn Errors | 21 | + + | |
4 | Carbohydrate Metabolism, Inborn Errors | 20 | + + | |
5 | Purine-Pyrimidine Metabolism, Inborn Errors | 18 | + + | |
6 | Metal Metabolism, Inborn Errors | 15 | + + | |
7 | Homocystinuria | 11 | + + | |
8 | Refractive Errors | 11 | + + | |
9 | Steroid Metabolism, Inborn Errors | 11 | + + | |
10 | Brain Diseases, Metabolic, Inborn | 9 | + + | |
11 | Ornithine Carbamoyltransferase Deficiency Disease | 8 | + + | |
12 | Hyperammonemia | 8 | + + | |
13 | Metabolic Diseases | 7 | + + | |
14 | Fructose Metabolism, Inborn Errors | 6 | + + | |
15 | Hypophosphatasia | 6 | + + | |
16 | Lesch-Nyhan Syndrome | 6 | + + | |
17 | Fructose Intolerance | 6 | + + | |
18 | Psychomotor Disorders | 6 | + + | |
19 | Hyperargininemia | 6 | + + | |
20 | Smith-Lemli-Opitz Syndrome | 5 | + + | |
21 | Pyruvate Metabolism, Inborn Errors | 5 | + + | |
22 | Hyperglycinemia, Nonketotic | 5 | + + | |
23 | Ketosis | 5 | + + | |
24 | Acidosis | 5 | + + | |
25 | Reye Syndrome | 4 | + + | |
26 | Failure to Thrive | 4 | + + | |
27 | Fabry Disease | 4 | + + | |
28 | Muscle Hypotonia | 4 | + + | |
29 | Calcium Metabolism Disorders | 4 | + + | |
30 | Genetic Diseases, Inborn | 4 | + + | |
31 | Renal Aminoacidurias | 4 | + + | |
32 | Phenylketonurias | 4 | + + | |
33 | Anemia, Megaloblastic | 4 | + + | |
34 | Brain Diseases, Metabolic | 4 | + + | |
35 | Tyrosinemias | 4 | + + | |
36 | Hyperhomocysteinemia | 4 | + + | |
37 | Maple Syrup Urine Disease | 4 | + + | |
38 | Citrullinemia | 4 | + + | |
39 | Agraphia | 4 | + + | |
40 | Mucopolysaccharidosis I | 3 | + + | |
41 | Holocarboxylase Synthetase Deficiency | 3 | + + | |
42 | Argininosuccinic Aciduria | 3 | + + | |
43 | Diseases in Twins | 3 | + + | |
44 | Intellectual Disability | 3 | + + | |
45 | Seizures | 3 | + + | |
46 | Articulation Disorders | 3 | + + | |
47 | Dyslexia | 3 | + + | |
48 | Ochronosis | 3 | + + | |
49 | Basal Ganglia Diseases | 3 | + + | |
50 | Porphyria, Erythropoietic | 3 | + + | |
51 | Sudden Infant Death | 3 | + + | |
52 | Epilepsy | 3 | + + | |
53 | Syndrome | 3 | + + | |
54 | Aphasia | 3 | + + | |
55 | Dyslexia, Acquired | 3 | + + | |
56 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 2 | + + | |
57 | Deficiency Diseases | 2 | + + | |
58 | Glucose Metabolism Disorders | 2 | + + | |
59 | Genetic Predisposition to Disease | 2 | + + | |
60 | Mitochondrial Diseases | 2 | + + | |
61 | Movement Disorders | 2 | + + | |
62 | Developmental Disabilities | 2 | + + | |
63 | Renal Tubular Transport, Inborn Errors | 2 | + + | |
64 | Anomia | 2 | + + | |
65 | Menkes Kinky Hair Syndrome | 2 | + + | |
66 | Crigler-Najjar Syndrome | 2 | + + | |
67 | Aphasia, Wernicke | 2 | + + | |
68 | Nervous System Diseases | 2 | + + | |
69 | Ichthyosis | 2 | + + | |
70 | Hypoglycemia | 2 | + + | |
71 | Hyperopia | 2 | + + | |
72 | Disease Progression | 2 | + + | |
73 | Growth Disorders | 2 | + + | |
74 | Deafness | 2 | + + | |
75 | Myopia | 2 | + + | |
76 | Liver Diseases | 2 | + + | |
77 | Cholestasis | 1 | + + | |
78 | Cardiomyopathies | 1 | + + | |
79 | Chronic Disease | 1 | + + | |
80 | Phosphorus Metabolism Disorders | 1 | + + | |
81 | Aphasia, Broca | 1 | + + | |
82 | Hepatolenticular Degeneration | 1 | + + | |
83 | Brain Damage, Chronic | 1 | + + | |
84 | Apraxias | 1 | + + | |
85 | Abnormalities, Multiple | 1 | + + | |
86 | Nondisjunction, Genetic | 1 | + + | |
87 | Drug Overdose | 1 | + + | |
88 | Perceptual Disorders | 1 | + + | |
89 | Recurrence | 1 | + + | |
90 | Lipid Metabolism Disorders | 1 | + + | |
91 | Brain Diseases | 1 | + + | |
92 | Hyperlipidemias | 1 | + + | |
93 | Diabetes Mellitus | 1 | + + | |
94 | Language Disorders | 1 | + + | |
95 | Astigmatism | 1 | + + | |
96 | Cerebral Infarction | 1 | + + | |
97 | Iron Metabolism Disorders | 1 | + + | |
98 | Anisometropia | 1 | + + | |
99 | Hyperglycemia | 1 | + + | |
100 | Hyperlipidemia, Familial Combined | 1 | + + | |
101 | Speech Disorders | 1 | + + | |
102 | Bone Diseases, Metabolic | 1 | + + | |
103 | Anemia, Macrocytic | 1 | + + | |
104 | Calcinosis | 1 | + + | |
105 | Galactosemias | 1 | + + | |
106 | Amblyopia | 1 | + + | |
107 | Hypoxia-Ischemia, Brain | 1 | + + | |
108 | Coma | 1 | + + | |
109 | Diabetes Mellitus, Type 2 | 1 | + + | |
110 | Muscular Diseases | 1 | + + | |