Abetalipoproteinemia   2 studies
Achlorhydria   4 studies
Acidosis   29 studies
Acidosis, Lactic   15 studies
Acidosis, Respiratory   1 study
Adrenal Hyperplasia, Congenital   16 studies
Adrenoleukodystrophy   29 studies
Albinism   8 studies
Albinism, Ocular   1 study
Albinism, Oculocutaneous   6 studies
Alkalosis   3 studies
Alkaptonuria   2 studies
Alpha-Mannosidosis   5 studies
Amino Acid Metabolism, Inborn Errors   56 studies
Amyloid Neuropathies   3 studies
Amyloid Neuropathies, Familial   3 studies
Amyloidosis   110 studies
Amyloidosis, Familial   3 studies
Anemia, Iron-Deficiency   82 studies
Arthritis, Gouty   5 studies
Ataxia Telangiectasia   35 studies
Avitaminosis   101 studies
Blind Loop Syndrome   1 study
Bloom Syndrome   1 study
Brain Diseases, Metabolic   224 studies
Brain Diseases, Metabolic, Inborn   190 studies
Calcinosis   19 studies
Carbamoyl-Phosphate Synthase I Deficiency Disease   1 study
Celiac Disease   33 studies
Cerebral Amyloid Angiopathy   1 study
Cholesterol Ester Storage Disease   3 studies
Citrullinemia   2 studies
Cockayne Syndrome   1 study
Colorectal Neoplasms, Hereditary Nonpolyposis   17 studies
Crigler-Najjar Syndrome   1 study
Cystinosis   11 studies
Cystinuria   2 studies
Deficiency Diseases   159 studies
Dehydration   17 studies
Diabetes Mellitus   3542 studies
Diabetes Mellitus, Experimental   1 study
Diabetes Mellitus, Type 1   490 studies
Diabetes Mellitus, Type 2   1810 studies
Diabetes, Gestational   44 studies
Diabetic Ketoacidosis   6 studies
Dihydropyrimidine Dehydrogenase Deficiency   6 studies
Dyslipidemias   811 studies
Fabry Disease   45 studies
Fanconi Anemia   33 studies
Fanconi Syndrome   8 studies
Folic Acid Deficiency   2 studies
Friedreich Ataxia   12 studies
Fucosidosis   4 studies
Galactosemias   2 studies
Gangliosidoses   8 studies
Gangliosidoses, GM2   7 studies
Gangliosidosis, GM1   3 studies
Gaucher Disease   36 studies
Glucose Intolerance   152 studies
Glucose Metabolism Disorders   3147 studies
Glucosephosphate Dehydrogenase Deficiency   2 studies
Glycogen Storage Disease   33 studies
Glycogen Storage Disease Type I   8 studies
Glycogen Storage Disease Type II   31 studies
Glycogen Storage Disease Type VII   1 study
Gout   28 studies
Hemochromatosis   23 studies
Hemosiderosis   13 studies
Hepatic Encephalopathy   36 studies
Hepatolenticular Degeneration   4 studies
Hermanski-Pudlak Syndrome   5 studies
HIV Wasting Syndrome   15 studies
HIV-Associated Lipodystrophy Syndrome   20 studies
Homocystinuria   2 studies
Hypercalcemia   21 studies
Hypercholesterolemia   395 studies
Hyperglycemia   280 studies
Hyperhomocysteinemia   13 studies
Hyperinsulinism   392 studies
Hyperkalemia   7 studies
Hyperlipidemia, Familial Combined   21 studies
Hyperlipidemias   612 studies
Hyperlipoproteinemia Type I   1 study
Hyperlipoproteinemia Type II   40 studies
Hyperlipoproteinemia Type III   3 studies
Hyperlipoproteinemia Type IV   4 studies
Hyperlipoproteinemia Type V   3 studies
Hyperlipoproteinemias   52 studies
Hypernatremia   4 studies
Hyperoxaluria, Primary   6 studies
Hyperphosphatemia   44 studies
Hypertriglyceridemia   69 studies
Hypoalphalipoproteinemias   4 studies
Hypobetalipoproteinemias   4 studies
Hypocalcemia   15 studies
Hypoglycemia   139 studies
Hypokalemia   6 studies
Hypokalemic Periodic Paralysis   2 studies
Hypolipoproteinemias   8 studies
Hyponatremia   36 studies
Hypophosphatasia   3 studies
Hypophosphatemia   10 studies
Hypophosphatemia, Familial   6 studies
Hypophosphatemic Rickets, X-Linked Dominant   5 studies
Ichthyosis, X-Linked   1 study
Inappropriate ADH Syndrome   10 studies
Insulin Resistance   514 studies
Iron Metabolism Disorders   140 studies
Iron Overload   70 studies
Ketosis   6 studies
Kwashiorkor   2 studies
Lactose Intolerance   4 studies
Lesch-Nyhan Syndrome   1 study
Leukodystrophy, Globoid Cell   7 studies
Leukodystrophy, Metachromatic   10 studies
Li-Fraumeni Syndrome   1 study
Lipid Metabolism Disorders   905 studies
Lipid Metabolism, Inborn Errors   186 studies
Lipidoses   104 studies
Lipodystrophy   75 studies
Lysosomal Storage Diseases   175 studies
Malabsorption Syndromes   61 studies
Malnutrition   375 studies
Mannosidase Deficiency Diseases   5 studies
MELAS Syndrome   3 studies
Menkes Kinky Hair Syndrome   2 studies
Metabolic Diseases   4727 studies
Metabolic Syndrome X   97 studies
Metabolism, Inborn Errors   481 studies
Mevalonate Kinase Deficiency   1 study
Mineralocorticoid Excess Syndrome, Apparent   1 study
Mitochondrial Diseases   28 studies
Mitochondrial Myopathies   5 studies
Mucolipidoses   4 studies
Mucopolysaccharidoses   34 studies
Mucopolysaccharidosis I   21 studies
Mucopolysaccharidosis II   8 studies
Mucopolysaccharidosis IV   3 studies
Mucopolysaccharidosis VI   9 studies
Mucopolysaccharidosis VII   1 study
Nephrocalcinosis   3 studies
Neuronal Ceroid-Lipofuscinoses   5 studies
Niemann-Pick Disease, Type A   8 studies
Niemann-Pick Disease, Type B   1 study
Niemann-Pick Disease, Type C   8 studies
Niemann-Pick Diseases   8 studies
Nutrition Disorders   1449 studies
Obesity   1484 studies
Obesity Hypoventilation Syndrome   2 studies
Obesity, Morbid   80 studies
Oculocerebrorenal Syndrome   3 studies
Optic Atrophy, Autosomal Dominant   1 study
Optic Atrophy, Hereditary, Leber   2 studies
Ornithine Carbamoyltransferase Deficiency Disease   5 studies
Osteomalacia   7 studies
Overnutrition   1210 studies
Paralyses, Familial Periodic   3 studies
Paralysis, Hyperkalemic Periodic   1 study
Peroxisomal Disorders   16 studies
Persistent Hyperinsulinemia Hypoglycemia of Infancy   3 studies
Phenylketonuria, Maternal   1 study
Phenylketonurias   24 studies
Piebaldism   1 study
Porphyria Cutanea Tarda   3 studies
Porphyria, Acute Intermittent   3 studies
Porphyria, Erythropoietic   15 studies
Porphyrias   15 studies
Porphyrias, Hepatic   8 studies
Prader-Willi Syndrome   14 studies
Prediabetic State   73 studies
Progeria   4 studies
Protein Deficiency   5 studies
Protein-Energy Malnutrition   5 studies
Protoporphyria, Erythropoietic   3 studies
Pseudohypoaldosteronism   4 studies
Pseudohypoparathyroidism   4 studies
Pseudopseudohypoparathyroidism   2 studies
Purine-Pyrimidine Metabolism, Inborn Errors   27 studies
Refsum Disease   2 studies
Refsum Disease, Infantile   2 studies
Renal Osteodystrophy   14 studies
Rickets   28 studies
Sandhoff Disease   6 studies
Severe Combined Immunodeficiency   23 studies
Smith-Lemli-Opitz Syndrome   9 studies
Sphingolipidoses   101 studies
Sprue, Tropical   2 studies
Starvation   4 studies
Steatorrhea   11 studies
Tangier Disease   1 study
Tay-Sachs Disease   8 studies
Tyrosinemias   2 studies
Vitamin A Deficiency   12 studies
Vitamin B 12 Deficiency   11 studies
Vitamin D Deficiency   86 studies
Wasting Syndrome   15 studies
Water Intoxication   2 studies
Water-Electrolyte Imbalance   77 studies
Werner Syndrome   1 study
Wolman Disease   3 studies
Xanthomatosis   2 studies
Xanthomatosis, Cerebrotendinous   2 studies
Xeroderma Pigmentosum   6 studies
Zellweger Syndrome   2 studies