Biomarkers in inborn errors of metabolism : clinical aspects and laboratory determination /
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| Main Authors: | , |
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| Format: | Book |
| Language: | English |
| Published: |
Amsterdam, Netherland :
Elsevier,
2017
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| Series: | Clinical aspects and laboratory determination of biomarkers series
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| Subjects: | |
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| 100 | 1 | |a Garg, Uttam, |e author | |
| 245 | 1 | 0 | |a Biomarkers in inborn errors of metabolism : |b clinical aspects and laboratory determination / |c Uttam Garg, Laurie D. Smith |
| 264 | 1 | |a Amsterdam, Netherland : |b Elsevier, |c 2017 | |
| 300 | |a 1 online resource | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 490 | 1 | |a Clinical aspects and laboratory determination of biomarkers series | |
| 504 | |a Includes bibliographical references and index | ||
| 505 | 0 | |a Front Cover; Biomarkers in Inborn Errors of Metabolism; Copyright Page; Contents; List of Contributors; Biographies; Preface; 1 Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism; 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; 2 Amino acids disorders; 2.1 Introduction; 2.2 Phenylketonuria (PKU) | |
| 505 | 8 | |a 2.2.1 Brief Description of the Disorder and Pathway2.2.2 Brief Description of Treatment; 2.2.3 Biomarkers for Diagnosis; 2.2.4 Biomarkers Followed for Treatment Efficacy; 2.3 Non-PKU Hyperphenylalaninemias; 2.3.1 Brief Description of the Disorder and Pathway; 2.3.2 Brief Description of Treatment; 2.3.3 Biomarkers for Diagnosis; 2.3.4 Biomarkers Followed for Treatment Efficacy; 2.4 Tyrosinemias; 2.4.1 Brief Description of the Disorder and Pathway; 2.4.2 Biomarkers for Diagnosis; 2.4.3 Biomarkers Followed for Treatment Efficacy; 2.4.4 Confounding Conditions | |
| 505 | 8 | |a 2.5 Nonketotic Hyperglycinemia (Glycine Encephalopathy)2.5.1 Brief Description of the Disorder and Pathway; 2.5.2 Brief Description of Treatment; 2.5.3 Biomarkers for Diagnosis; 2.5.4 Biomarkers Followed for Treatment Efficacy; 2.5.5 Other Biomarkers; 2.6 Maple Syrup Urine Disease; 2.6.1 Brief Description of the Disorder and Pathway; 2.6.2 Brief Description of Treatment; 2.6.3 Biomarkers for Diagnosis; 2.6.4 Biomarkers Followed for Treatment Efficacy; 2.6.5 Biomarkers Followed for Disease Progression; 2.6.6 Other Biomarkers: Less Established, Future; 2.7 Homocystinuria | |
| 505 | 8 | |a 2.7.1 Brief Description of the Disorder and Pathway2.7.2 Brief Description of Treatment; 2.7.3 Biomarkers for Diagnosis; 2.7.4 Biomarkers Followed for Treatment Efficacy; 2.7.5 Other Biomarkers: Less Established, Future; 2.8 Hypermethioninemia; 2.8.1 Brief Description of the Disorder and Pathway; 2.8.2 Brief Description of Treatment; 2.8.3 Biomarkers for Diagnosis; 2.8.4 Biomarkers Followed for Treatment Efficacy; 2.8.5 Biomarkers Followed for Disease Progression; 2.8.6 Confounding Conditions That Can Cause Hypermethioninemia; 2.8.7 Other Biomarkers: Less Established, Future | |
| 505 | 8 | |a 2.9 Hyperprolinemia2.9.1 Brief Description of the Disorder and Pathway; 2.9.2 Brief Description of Treatment; 2.9.3 Biomarkers for Diagnosis; 2.10 Sulfocysteinuria; 2.10.1 Brief Description of the Disorder and Pathway; 2.10.2 Brief Description of Treatment; 2.10.3 Biomarkers for Diagnosis; 2.10.4 Biomarkers Followed for Treatment Efficacy; 2.10.5 Confounding Conditions; 2.11 Cystinuria (OMIM: 220100); 2.11.1 Brief Description of the Disorder and Pathway; 2.11.2 Brief Description of Treatment; 2.11.3 Biomarkers for Diagnosis; 2.11.4 Biomarkers Followed for Treatment Efficacy | |
| 588 | 0 | |a Vendor-supplied metadata | |
| 596 | |a 22 | ||
| 650 | 0 | |a Diagnosis, Laboratory | |
| 650 | 0 | |a Metabolism, Inborn errors of | |
| 650 | 2 | |a Metabolism, Inborn Errors | |
| 650 | 7 | |a Diagnosis, Laboratory |2 fast | |
| 650 | 7 | |a HEALTH & FITNESS / Diseases / General |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Clinical Medicine |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Diseases |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Evidence-Based Medicine |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Internal Medicine |2 bisacsh | |
| 650 | 7 | |a Metabolism, Inborn errors of |2 fast | |
| 655 | 0 | |a Electronic books | |
| 655 | 4 | |a Electronic books | |
| 700 | 1 | |a Smith, Laurie D., |d 1957- |e author |? UNAUTHORIZED | |
| 700 | 1 | |a Smith, Laurie D., |d 1957- |e author | |
| 776 | 0 | 8 | |c Original |z 0128028963 |z 9780128028964 |w (OCoLC)962350973 |
| 830 | 0 | |a Clinical aspects and laboratory determination of biomarkers series | |
| 880 | 0 | |6 505-00 |a 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 | |
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