BookUttam Garg, Laurie D. Smith.
Contents:
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.