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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
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