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|a 616.39042
|2 23
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| 100 |
1 |
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|a Garg, Uttam,
|e author.
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| 245 |
1 |
0 |
|a Biomarkers in inborn errors of metabolism :
|b clinical aspects and laboratory determination /
|c Uttam Garg, Laurie D. Smith.
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| 264 |
|
1 |
|a Amsterdam, Netherland :
|b Elsevier,
|c 2017.
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| 300 |
|
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|a 1 online resource
|
| 336 |
|
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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| 490 |
1 |
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|a Clinical aspects and laboratory determination of biomarkers series
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| 504 |
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|a Includes bibliographical references and index.
|
| 588 |
0 |
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|a Vendor-supplied metadata.
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| 505 |
0 |
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|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)
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| 505 |
8 |
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|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
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| 505 |
8 |
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|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
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| 505 |
8 |
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|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
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| 505 |
8 |
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|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
|
| 650 |
|
0 |
|a Metabolism, Inborn errors of.
|
| 650 |
|
0 |
|a Diagnosis, Laboratory.
|
| 650 |
|
2 |
|a Metabolism, Inborn Errors
|0 (DNLM)D008661
|
| 650 |
|
6 |
|a Maladies m�etaboliques cong�enitales.
|0 (CaQQLa)201-0000243
|
| 650 |
|
6 |
|a Diagnostics biologiques.
|0 (CaQQLa)201-0014951
|
| 650 |
|
7 |
|a HEALTH & FITNESS
|x Diseases
|x General.
|2 bisacsh
|
| 650 |
|
7 |
|a MEDICAL
|x Clinical Medicine.
|2 bisacsh
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| 650 |
|
7 |
|a MEDICAL
|x Diseases.
|2 bisacsh
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| 650 |
|
7 |
|a MEDICAL
|x Evidence-Based Medicine.
|2 bisacsh
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| 650 |
|
7 |
|a MEDICAL
|x Internal Medicine.
|2 bisacsh
|
| 650 |
|
7 |
|a Diagnosis, Laboratory
|2 fast
|0 (OCoLC)fst00892307
|
| 650 |
|
7 |
|a Metabolism, Inborn errors of
|2 fast
|0 (OCoLC)fst01017496
|
| 655 |
|
0 |
|a Electronic books.
|
| 655 |
|
4 |
|a Internet Resources.
|
| 655 |
|
4 |
|a Charts.
|
| 700 |
1 |
|
|a Smith, Laurie D.,
|d 1957-
|e author.
|
| 776 |
0 |
8 |
|i Print version:
|a Garg, Uttam.
|t Biomarkers in inborn errors of metabolism.
|d Amsterdam, Netherland : Elsevier, 2017
|z 0128028963
|z 9780128028964
|w (OCoLC)962350973
|
| 830 |
|
0 |
|a Clinical aspects and laboratory determination of biomarkers series.
|
| 856 |
4 |
0 |
|u https://sciencedirect.uam.elogim.com/science/book/9780128028964
|z Texto completo
|
| 856 |
4 |
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|u https://sciencedirect.uam.elogim.com/science/book/9780128028964
|z Texto completo
|
| 880 |
0 |
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|6 505-00/(S
|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.
|
