1. | 5'-Nucleotidase Syndrome (1 study) |
2. | Abetalipoproteinemia (2 studies) |
3. | Achlorhydria (1 study) |
4. | Acid-Base Imbalance (7 studies) |
5. | Acidosis (8 studies) |
6. | Acidosis, Lactic (7 studies) |
7. | Acidosis, Respiratory (1 study) |
8. | Adrenal Hyperplasia, Congenital (4 studies) |
9. | Adrenoleukodystrophy (6 studies) |
10. | Albinism (3 studies) |
11. | Albinism, Ocular (1 study) |
12. | Albinism, Oculocutaneous (1 study) |
13. | Alkaptonuria (1 study) |
14. | alpha-Mannosidosis (2 studies) |
15. | Amino Acid Metabolism, Inborn Errors (2 studies) |
16. | Amyloidosis (56 studies) |
17. | Anemia, Iron-Deficiency (2 studies) |
18. | Ascorbic Acid Deficiency (1 study) |
19. | Avitaminosis (5 studies) |
20. | beta-Oxidation Disorder (1 study) |
21. | Bifunctional Enzyme Deficiency (2 studies) |
22. | Brain Diseases, Metabolic (58 studies) |
23. | Brain Diseases, Metabolic, Inborn (57 studies) |
24. | Calcinosis (2 studies) |
25. | Calcium Metabolism Disorders (13 studies) |
26. | Celiac Disease (1 study) |
27. | Cerebral Amyloid Angiopathy (1 study) |
28. | CREST Syndrome (2 studies) |
29. | Cystinosis (8 studies) |
30. | Deficiency Diseases (18 studies) |
31. | Diabetes Mellitus (269 studies) |
32. | Diabetes Mellitus, Experimental (1 study) |
33. | Diabetes Mellitus, Lipoatrophic (1 study) |
34. | Diabetes Mellitus, Type I (36 studies) |
35. | Diabetes Mellitus, Type II (269 studies) |
36. | Diabetes, Gestational (2 studies) |
37. | Fabry Disease (14 studies) |
38. | Fanconi Syndrome (4 studies) |
39. | Friedreich Ataxia (3 studies) |
40. | Fucosidosis (2 studies) |
41. | Gangliosidoses (2 studies) |
42. | Gangliosidoses GM2 (1 study) |
43. | Gangliosidosis GM1 (1 study) |
44. | Gaucher Disease (12 studies) |
45. | Glucose Intolerance (8 studies) |
46. | Glucose Metabolism Disorders (248 studies) |
47. | Glucosephosphate Dehydrogenase Deficiency (2 studies) |
48. | Glycogen Storage Disease (8 studies) |
49. | Glycogen Storage Disease Type II (8 studies) |
50. | Glycogen Storage Disease Type VII (1 study) |
51. | Gout (1 study) |
52. | Hemochromatosis (8 studies) |
53. | Hemosiderosis (2 studies) |
54. | Hepatic Encephalopathy (1 study) |
55. | Hepatolenticular Degeneration (2 studies) |
56. | HIV Wasting Syndrome (13 studies) |
57. | Homocystinuria (1 study) |
58. | Hyperbilirubinemia (3 studies) |
59. | Hypercalcemia (7 studies) |
60. | Hypercholesterolemia (65 studies) |
61. | Hypercholesterolemia, Familial (6 studies) |
62. | Hyperglycemia (13 studies) |
63. | Hyperhomocysteinemia (4 studies) |
64. | Hyperinsulinism (35 studies) |
65. | Hyperlipidemia (92 studies) |
66. | Hyperlipidemia, Familial Combined (12 studies) |
67. | Hyperlipoproteinemia (13 studies) |
68. | Hyperlipoproteinemia Type IV (1 study) |
69. | Hypertriglyceridemia (14 studies) |
70. | Hypobetalipoproteinemia (1 study) |
71. | Hypocalcemia (6 studies) |
72. | Hypoglycemia (3 studies) |
73. | Hypokalemic Periodic Paralysis (1 study) |
74. | Hypolipoproteinemia (5 studies) |
75. | Hyponatremia (2 studies) |
76. | Hypophosphatemia (1 study) |
77. | Ichthyosis, X-Linked (1 study) |
78. | Inappropriate ADH Syndrome (1 study) |
79. | Insulin Resistance (40 studies) |
80. | Iron Metabolism Disorders (10 studies) |
81. | Iron Overload (13 studies) |
82. | Jaundice, Neonatal (1 study) |
83. | Kwashiorkor (1 study) |
84. | Lesch-Nyhan Syndrome (1 study) |
85. | Leukodystrophy, Globoid Cell (3 studies) |
86. | Leukodystrophy, Metachromatic (3 studies) |
87. | Lipid Metabolism, Inborn Errors (5 studies) |
88. | Lipoidosis (30 studies) |
89. | Lysosomal Storage Diseases (47 studies) |
90. | Lysosomal Storage Diseases, Nervous System (37 studies) |
91. | Magnesium Deficiency (1 study) |
92. | Malabsorption Syndromes (4 studies) |
93. | Malnutrition (7 studies) |
94. | Mannosidase Deficiency Diseases (2 studies) |
95. | MELAS Syndrome (2 studies) |
96. | Menkes Kinky Hair Syndrome (1 study) |
97. | Metabolic Diseases (613 studies) |
98. | Metabolic Syndrome X (7 studies) |
99. | Metabolism, Inborn Errors (144 studies) |
100. | Methylmalonic Acidemia (1 study) |
101. | Mitochondrial Diseases (7 studies) |
102. | Mitochondrial Encephalomyopathies (2 studies) |
103. | Mitochondrial Myopathies (3 studies) |
104. | Mucolipidoses (2 studies) |
105. | Mucopolysaccharidoses (8 studies) |
106. | Mucopolysaccharidosis I (3 studies) |
107. | Mucopolysaccharidosis II (2 studies) |
108. | Mucopolysaccharidosis IV (16 studies) |
109. | Mucopolysaccharidosis VI (5 studies) |
110. | Neuronal Ceroid-Lipofuscinosis (1 study) |
111. | Niemann-Pick Diseases (3 studies) |
112. | Nutrition Disorders (164 studies) |
113. | Nutritional and Metabolic Diseases (611 studies) |
114. | Obesity (152 studies) |
115. | Obesity in Diabetes (1 study) |
116. | Ochronosis (1 study) |
117. | Ornithine Carbamoyltransferase Deficiency Disease (2 studies) |
118. | Osteomalacia (2 studies) |
119. | Overnutrition (144 studies) |
120. | Paralyses, Familial Periodic (1 study) |
121. | Paralysis, Hyperkalemic Periodic (1 study) |
122. | Peroxisomal Disorders (7 studies) |
123. | Phenylketonurias (2 studies) |
124. | Porphyria (11 studies) |
125. | Porphyria Cutanea Tarda (1 study) |
126. | Porphyria, Acute Intermittent (1 study) |
127. | Porphyria, Erythrohepatic (2 studies) |
128. | Porphyria, Erythropoietic (11 studies) |
129. | Porphyria, Hepatic (1 study) |
130. | Prader-Willi Syndrome (2 studies) |
131. | Prediabetic State (1 study) |
132. | Protein Deficiency (1 study) |
133. | Protein-Energy Malnutrition (1 study) |
134. | Pseudohypoaldosteronism (1 study) |
135. | Pseudohypoparathyroidism (2 studies) |
136. | Pseudopseudohypoparathyroidism (1 study) |
137. | Purine-Pyrimidine Metabolism, Inborn Errors (1 study) |
138. | Refsum Disease (2 studies) |
139. | Rickets (2 studies) |
140. | Sitosterolemia (6 studies) |
141. | Skin Diseases, Metabolic (30 studies) |
142. | Smith-Lemli-Opitz Syndrome (6 studies) |
143. | Sphingolipidoses (33 studies) |
144. | Tangier Disease (1 study) |
145. | Tay-Sachs Disease (1 study) |
146. | Tyrosinemias (2 studies) |
147. | Vitamin A Deficiency (1 study) |
148. | Vitamin D Deficiency (4 studies) |
149. | Wasting Syndrome (13 studies) |
150. | Water-Electrolyte Imbalance (12 studies) |
151. | Wolman Disease (2 studies) |
152. | Xanthomatosis (3 studies) |
153. | Xanthomatosis, Cerebrotendinous (2 studies) |
154. | Zellweger Syndrome (2 studies) |