| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Glucosephosphate Dehydrogenase Deficiency | 100 | + + | |
2 | Anemia, Hemolytic, Congenital Nonspherocytic | 64 | + + | |
3 | Dihydropyrimidine Dehydrogenase Deficiency | 25 | + + | |
4 | Pyruvate Dehydrogenase Complex Deficiency Disease | 19 | + + | |
5 | Anemia, Hemolytic, Congenital | 19 | + + | |
6 | Lipid Metabolism, Inborn Errors | 18 | + + | |
7 | Metabolism, Inborn Errors | 15 | + + | |
8 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 14 | + + | |
9 | Anemia, Hemolytic | 12 | + + | |
10 | Disease | 9 | + + | |
11 | Deficiency Diseases | 6 | + + | |
12 | Favism | 6 | + + | |
13 | Hemolysis | 5 | + + | |
14 | Purine-Pyrimidine Metabolism, Inborn Errors | 5 | + + | |
15 | Amino Acid Metabolism, Inborn Errors | 5 | + + | |
16 | Reye Syndrome | 5 | + + | |
17 | Acidosis, Lactic | 4 | + + | |
18 | Brain Diseases, Metabolic, Inborn | 4 | + + | |
19 | Metabolic Diseases | 4 | + + | |
20 | Acidosis | 4 | + + | |
21 | Vitamin B 12 Deficiency | 3 | + + | |
22 | Sudden Infant Death | 3 | + + | |
23 | Muscular Diseases | 3 | + + | |
24 | Hypoglycemia | 3 | + + | |
25 | Mitochondrial Diseases | 3 | + + | |
26 | Brain Diseases, Metabolic | 3 | + + | |
27 | Muscle Hypotonia | 3 | + + | |
28 | alpha 1-Antitrypsin Deficiency | 3 | + + | |
29 | IgA Deficiency | 3 | + + | |
30 | Ketosis | 3 | + + | |
31 | Seizures | 2 | + + | |
32 | Fatty Liver | 2 | + + | |
33 | Myoglobinuria | 2 | + + | |
34 | Hyperbilirubinemia | 2 | + + | |
35 | Adrenal Hyperplasia, Congenital | 2 | + + | |
36 | Leigh Disease | 2 | + + | |
37 | Mitochondrial Myopathies | 2 | + + | |
38 | Protein C Deficiency | 2 | + + | |
39 | Rhabdomyolysis | 2 | + + | |
40 | Kernicterus | 2 | + + | |
41 | Disorders of Sex Development | 2 | + + | |
42 | Hirsutism | 2 | + + | |
43 | Protein S Deficiency | 2 | + + | |
44 | Jaundice, Neonatal | 2 | + + | |
45 | Hepatitis A | 2 | + + | |
46 | Peroxisomal Disorders | 1 | + + | |
47 | Maple Syrup Urine Disease | 1 | + + | |
48 | Factor VII Deficiency | 1 | + + | |
49 | Immunologic Deficiency Syndromes | 1 | + + | |
50 | Genetic Predisposition to Disease | 1 | + + | |
51 | Vitamin A Deficiency | 1 | + + | |
52 | Diseases in Twins | 1 | + + | |
53 | Cardiomyopathies | 1 | + + | |
54 | Pyruvate Metabolism, Inborn Errors | 1 | + + | |
55 | Methemoglobinemia | 1 | + + | |
56 | IgG Deficiency | 1 | + + | |
57 | Developmental Disabilities | 1 | + + | |
58 | Psychomotor Disorders | 1 | + + | |
59 | Factor XI Deficiency | 1 | + + | |
60 | Vitamin D Deficiency | 1 | + + | |
61 | Factor X Deficiency | 1 | + + | |
62 | Spherocytosis, Hereditary | 1 | + + | |
63 | Gangliosidosis, GM1 | 1 | + + | |
64 | Spasms, Infantile | 1 | + + | |
65 | Folic Acid Deficiency | 1 | + + | |
66 | Antithrombin III Deficiency | 1 | + + | |
67 | Movement Disorders | 1 | + + | |
68 | Muscle Weakness | 1 | + + | |
69 | Vitamin K Deficiency | 1 | + + | |
70 | Nervous System Diseases | 1 | + + | |
71 | Hepatomegaly | 1 | + + | |
72 | Factor V Deficiency | 1 | + + | |
73 | Gynecomastia | 1 | + + | |
74 | Infant, Newborn, Diseases | 1 | + + | |
75 | Ornithine Carbamoyltransferase Deficiency Disease | 1 | + + | |
76 | Factor XIII Deficiency | 1 | + + | |
77 | Factor XII Deficiency | 1 | + + | |
78 | Thiamine Deficiency | 1 | + + | |
79 | Cytochrome-c Oxidase Deficiency | 1 | + + | |
80 | Intellectual Disability | 1 | + + | |
81 | Biotinidase Deficiency | 1 | + + | |
82 | Vitamin B Deficiency | 1 | + + | |
83 | Death, Sudden | 1 | + + | |
84 | Microcephaly | 1 | + + | |
85 | Acute Disease | 1 | + + | |
86 | Vitamin E Deficiency | 1 | + + | |
87 | Fructose-1,6-Diphosphatase Deficiency | 1 | + + | |
88 | Recurrence | 1 | + + | |
89 | Brain Diseases | 1 | + + | |
90 | Dysgammaglobulinemia | 1 | + + | |
91 | Anemia, Iron-Deficiency | 1 | + + | |
92 | Carbohydrate Metabolism, Inborn Errors | 1 | + + | |