Biomarkers in Inborn Errors of Metabolism. Clinical Aspects and Laboratory Determination 1st Edition Edition Uttam Garg And Laurie D. Smith (Auth.) – eBook PDF

Biomarkers in Inborn Errors of Metabolism. Clinical Aspects and Laboratory Determination – Ebook PDF Instant Delivery – ISBN(s): 9780128029183,0128029188

Product details:

• ISBN-10 ‏ : ‎ 0128028963
• ISBN-13 ‏ : ‎ 978-0128028964
• Author: Uttam Garg, Laurie D. Smith

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders.

Table contents:

1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism

2. Amino acid disorders

3. Organic acid disorders

4. Disorders of mitchondrial 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 glycosylation16. Disorders of vitamins and cofactors

17. Disorders of trace metals

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