Biomarkers in Inborn Errors of Metabolism
Clinical Aspects and Laboratory Determination

A guide to biomarkers associated with inborn errors of metabolism, their clinical application, and laboratory methods used for detection

Uttam Garg (Author), Laurie D. Smith (Author)

9780128028964

Hardback, published 2 June 2017

476 pages
23.4 x 19 x 2.9 cm, 1.13 kg

Approx.450 pages

1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism2. Amino acid disorders3. Organic acid disorders4. Disorders of mitchondrial fatty acid ß-oxidation5. Urea cycle and other disorders of hyperammonemia6. Newborn screening7. Carbohydrate disorders8. Mitochondrial disorders9. Lysosomal storage disorders: mucopolysaccharidoses10. Lysosomal storage disorders: sphingolipidoses11. Peroxisomal disorders: clinical and biochemical laboratory aspects12. Disorders of purine and pyrimidine metabolism13. Biomarkers for the study of catecholamine and serotonin genetic diseases14. Cerebral creatine deficiency syndromes15. Congenital disorders of glycosylation16. Disorders of vitamins and cofactors17. Disorders of trace metals

Subject Areas: Endocrinology [MJG]