(Ebook PDF) Biomarkers in Inborn Errors of Metabolism Clinical Aspects and Laboratory Determination 1st Edition by Uttam Garg, Laurie Smith 0128029188 9780128029183 full chapters

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ISBN-10 :  0128029188 

ISBN-13 :  9780128029183

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.

Biomarkers in Inborn Errors of Metabolism Clinical Aspects and Laboratory Determination 1st Table of contents:

Chapter 1. Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism
Abstract
1.1 Introduction
1.2 Laboratory Biomarkers and Tests in Diagnosis of IEM
1.3 Specimen Types
1.4 Specimen Collection and Processing
1.5 Specimen Analysis, Quality Control, and Quality Assurance
1.6 Method Selection and Evaluation
1.7 Treatment and Prognosis
References
Chapter 2. Amino acids disorders
Abstract
2.1 Introduction
2.2 Phenylketonuria (PKU)
2.3 Non-PKU Hyperphenylalaninemias
2.4 Tyrosinemias
2.5 Nonketotic Hyperglycinemia (Glycine Encephalopathy)
2.6 Maple Syrup Urine Disease
2.7 Homocystinuria
2.8 Hypermethioninemia
2.9 Hyperprolinemia
2.10 Sulfocysteinuria
2.11 Cystinuria (OMIM: 220100)
Acknowledgment
References
Chapter 3. Organic acid disorders
Abstract
3.1 Introduction
3.2 Selected Organic Acid Disorders
3.3 Other Organic Acid Disorders
References
Chapter 4. Disorders of mitochondrial fatty acid β-oxidation
Abstract
4.1 Introduction
4.2 Disorders of Carnitine Transport
4.3 Disorders of Fatty Acid Oxidation
4.4 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
4.5 Medium-Chain Acyl-CoA Dehydrogenase Deficiency
4.6 Short-Chain Acyl-CoA Dehydrogenase Deficiency
4.7 Long-Chain L-3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies
4.8 Medium/Short-Chain L-3-Hydroxy-Acyl-CoA Dehydrogenase
4.9 Multiple Acyl-CoA Dehydrogenase Deficiency
References
Chapter 5. Urea cycle and other disorders of hyperammonemia
Abstract
5.1 Introduction
5.2 Brief Description of Clinical Presentation
5.3 Urea Cycle Disorders
5.4 Other Inborn Defects Associated With Hyperammonemia
5.5 Confounding Conditions That Can Cause Hyperammonemia
5.6 Biomarkers for Differential Diagnosis of Hyperammonemia
5.7 Biomarkers Followed for Treatment Efficacy and Disease Progression
5.8 Brief Description of Treatment
5.9 Conclusions
Acknowledgment
References
Chapter 6. Newborn screening
Abstract
6.1 Newborn Screening
6.2 Amino Acid Disorders
6.3 Organic Acidemias
6.4 Fatty Acid Oxidation Disorders
6.5 Region 4 Stork
6.6 Galactosemia
6.7 Biotinidase Deficiency
6.8 Conclusion
References
Chapter 7. Carbohydrate disorders
Abstract
7.1 Introduction
7.2 Galactosemia
7.3 Inborn Errors in Fructose Metabolism
7.4 Glycogen Storage Diseases
7.5 Conclusions
References
Chapter 8. Mitochondrial disorders
Abstract
8.1 Introduction
8.2 Clinical Presentation
8.3 Genetics
8.4 Diagnosis
8.5 Diagnostic Studies
8.6 Treatment
8.7 Confounding Conditions
8.8 Selected Disorders
8.9 Conclusion
References
Chapter 9. Lysosomal storage disorders: Mucopolysaccharidoses
Abstract
9.1 Introduction
9.2 Brief Description of Clincial Presentations
9.3 Mucopolysaccharidoses
9.4 Other Diseases With MPS-Like Phenotypes
9.5 Glycosaminoglycans and GAGS Analysis
9.6 Laboratory Diagnosis of MPS Disorders
9.7 Brief Description of Treatment
9.8 Conclusion
Acknowledgment
References
Chapter 10. Lysosomal storage disorders: Sphingolipidoses
Abstract
10.1 Introduction
10.2 Overview of Sphingolipids Metabolism
10.3 Sphingolipidoses
10.4 Biomarkers in Current Use
10.5 Conclusion
References
Chapter 11. Peroxisomal disorders: Clinical and biochemical laboratory aspects
Abstract
11.1 Peroxisome Structure, Biogenesis, and Function
11.2 Peroxisomal Metabolism
11.3 Peroxisomal Disorders Phenotypes and Associated Biochemical Abnormalities
11.4 Laboratory Diagnosis of Peroxisomal Disorders
11.5 Therapies for Peroxisomal Disorders
References
Chapter 12. Disorders of purine and pyrimidine metabolism
Abstract
12.1 Introduction
12.2 Brief Description of Clinical Presentation
12.3 Disorders of Purine and Pyrimidine Metabolism
12.4 Disorders of Purine Catabolism
12.5 Disorders of the Purine Salvage Pathway
12.6 Disorders of Uric Acid Transport
12.7 Disorders of De Novo of Pyrimidine Biosynthesis
12.8 Disorders of Pyrimidine Catabolism
12.9 Disorders of the Pyrimidine Salvage Pathway
12.10 Biomarkers for Detection of Purine and Pyrimidine Metabolism
12.11 Urine and Plasma Uric Acid
12.12 Urine Purine and Pyrimidine Profiles
12.13 Brief Description of Treatment
12.14 Confounding Conditions
12.15 Conclusions
References
Chapter 13. Biomarkers for the study of catecholamine and serotonin genetic diseases
Abstract
13.1 Brief Description of the Disorder and Pathway
13.2 Brief Description of Treatment
13.3 Biomarkers for Diagnosis
13.4 Biomarkers Followed for Treatment Efficacy
13.5 Biomarkers Followed for Disease Progression
13.6 Confounding Conditions Affecting Biomarker Expression
13.7 Other Biomarkers: Less Established, Future
13.8 Abbreviations
References
Chapter 14. Cerebral creatine deficiency syndromes
Abstract
14.1 Introduction
14.2 Brief Description of Clinical Presentation
14.3 Cerebral Creatine Deficiency Syndromes
14.4 Secondary Conditions That Can Cause Creatine or GAA Abnormalities
14.5 Biomarkers for Differential Diagnosis of Cerebral Creatine Deficiency Syndromes
14.6 Biomarkers Followed for Treatment Efficacy and Disease Progression
14.7 Brief Description of Treatment
14.8 Conclusions
References
Chapter 15. Congenital disorders of glycosylation
Abstract
15.1 Introduction
15.2 Brief Description of Clinical Presentation
15.3 Selected Disorders of Glycosylation
15.4 Other Inborn Defects Associated with Abnormal Glycosylation
15.5 Confounding Conditions That Can Cause Abnormal Glycosylation Patterns
15.6 Biomarkers for Diagnosis of Congenital Disorders of Glycosylation
15.7 Anticipated Changes in Diagnosis and Management of CDG
15.8 Conclusions
References
Chapter 16. Disorders of vitamins and cofactors
Abstract
16.1 Thiamine (Vitamin B1)
16.2 Riboflavin (Vitamin B2)
16.3 Niacin (Vitamin B3)
16.4 Pantothenic Acid (Vitamin B5)
16.5 Pyridoxine (Vitamin B6)
16.6 Biotin (Vitamin B7)
16.7 Cobalamin (Vitamin B12)
References
Chapter 17. Disorders of trace metals
Abstract
17.1 Introduction
17.2 Zinc
17.3 Copper
17.4 Molybdenum
17.5 Manganese
17.6 Selenium
17.7 Magnesium

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