Atlas of Inherited Metabolic Diseases

Part 1: Organic Acidemias. Part 2: Disorders of Amino Acid Metabolism. Part 3: Hyperammonemia and Disorders of the Urea Cycle. Part 4: Disorders of Fatty Acid Oxidation. Part 5: The Lactic Acidemias and Mitochondrial Disease. Part 6: Disorders of Carbohydrate Metabolism. Part 7: Peroxisomal Disorders. Part 8: Disorders Of Purine And Pyridine Metabolism. Part 9: Mucopolysaccharidoses. Part 10: Mucolipidosis. Part 11: Disorders Of Cholesterol And Neutral Lipid Metabolism. Part 12: Lipid Storage Disorders. Part 13: Miscellaneous.

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• Genética médica
• Medicina pediátrica
• Endocrinologia

ETF;Organic acidemias;Electron Transfer Flavoprotein;Disorders of amino acid metabolism;Hepatorenal Tyrosinemia;Disorders of fatty acid oxidation;Propionyl CoA Carboxylase;Disorders of carbohydrate metabolism;Dysostosis Multiplex;Disorders of transport and mineral metabolism;Methylmalonic Acidemia;inherited metabolic diseases;Hypoketotic Hypoglycemia;inborn errors;Lactic Acidemia;clinical subspecialty;OTCD;Ornithine Transcarbamylase Deficiency;Orotic Aciduria;Propionic Acidemia;Acyl CoA Dehydrogenase;Cps;Carbamylphosphate Synthetase;CoA Ester;Organic Acid Analysis;Mitochondrial DNA;Urea Cycle Disorders;Multiple Carboxylase Deficiency;Spinal Cord;Organic Acidemia;Nonketotic Hyperglycinemia;Short - Chain Acyl CoA Dehydrogenase;Methylmalonic Aciduria