| 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) |
