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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• Endocrinologia
• Medicina pediátrica
• Genética médica

paediatric metabolic disorders;biochemical pathway analysis;genetic metabolic syndromes;rare paediatric diseases;metabolic diagnostic algorithms;clinical biochemical genetics;advanced inherited metabolic disorder management