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  • Book
    Uttam Garg, Laurie D. Smith.
    Digital : ScienceDirect2017
    1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism -- 2. Amino acids disorders -- 3. Organic acid disorders -- 4. Disorders of mitochondrial fatty acid β-oxidation -- 5. Urea cycle and other disorders of hyperammonemia -- 6. Newborn screening -- 7. Carbohydrate disorders -- 8. Mitochondrial disorders -- 9. Lysosomal storage disorders: mucopolysaccharidoses -- 10. Lysosomal storage disorders: sphingolipidoses -- 11. Peroxisomal disorders: clinical and biochemical laboratory aspects -- 12. Disorders of purine and pyrimidine metabolism -- 13. Biomarkers for the study of catecholamine and serotonin genetic diseases -- 14. Cerebral creatine deficiency syndromes -- 15. Congenital disorders of glycosylation -- 16. Disorders of vitamins and cofactors -- 17. Disorders of trace metals -- Index.