Atlas of Inherited Metabolic Diseases. (Record no. 18964)
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| 000 -LEADER | |
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| fixed length control field | 11395nam a22004933i 4500 |
| 001 - CONTROL NUMBER | |
| control field | EBC6236323 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | MiAaPQ |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240724114345.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
| fixed length control field | m o d | |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr cnu|||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 240724s2020 xx o ||||0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781138196629 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9781138196599 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (MiAaPQ)EBC6236323 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (Au-PeEL)EBL6236323 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)1160995344 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | MiAaPQ |
| Language of cataloging | eng |
| Description conventions | rda |
| -- | pn |
| Transcribing agency | MiAaPQ |
| Modifying agency | MiAaPQ |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RB147 |
| Item number | .N943 2020 |
| 082 0# - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.3/9 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Nyhan, William L. |
| 245 10 - TITLE STATEMENT | |
| Title | Atlas of Inherited Metabolic Diseases. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 4th ed. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Milton : |
| Name of producer, publisher, distributor, manufacturer | Taylor & Francis Group, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2020. |
| 264 #4 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | ©2020. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (871 pages) |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Cover -- Half Title -- Title Page -- Copyright Page -- Contents -- Preface by William L. Nyhan -- Preface by Georg F. Hoffmann -- Contributors -- Part 1: Organic acidemias -- 1. Introduction to the organic acidemias -- 2. Propionic acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 3. Methylmalonic acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 4. Cobalamin C, D, F, G diseases -- methylmalonic aciduria and variable homocystinuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 5. The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 6. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 7. Multiple carboxylase deficiency/biotinidase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 8. Isovaleric acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 9. Glutaric aciduria (type I) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 10. 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 11. D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 12. L-2-hydroxyglutaric aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | References -- 13. 4-Hydroxybutyric aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 2: Disorders of amino acid metabolism -- 14. Alkaptonuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 15. Phenylketonuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Diagnosis -- Treatment -- Maternal PKU -- References -- 16. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Diagnosis -- Treatment -- References -- 17. Biogenic amines -- Aromatic L-amino acid decarboxylase deficiency -- Introduction -- Clinical abnormalities -- Psychiatric disorders in carriers -- Genetics and pathogenesis -- Treatment -- Tyrosine hydroxylase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- Dopamine transporter deficiency syndrome -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 18. Homocystinuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 19. Maple syrup urine disease (branched-chain oxoaciduria) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 20. Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 21. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 22. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | References -- 23. Nonketotic hyperglycinemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 24. Serine deficiencies -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 3: Hyperammonemia and Disorders of the Urea Cycle -- 25. Introduction to hyperammonemia and disorders of the urea cycle -- Introduction -- Work up of the patients with hyperammonemia -- Treatment of hyperammonemia -- References -- 26. Ornithine transcarbamylase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 27. Carbamylphosphate synthetase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 28. Citrullinemia type I -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 29. Argininosuccinic aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 30. Argininemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 31. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 32. Lysinuric protein intolerance -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 33. Glutamine synthetase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 4: Disorders of fatty acid oxidation -- 34. Introduction to disorders of fatty acid oxidation -- Introduction -- References -- 35. Carnitine transporter deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 36. Carnitine-acylcarnitine translocase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 37. Carnitine palmitoyl transferase I deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 38. Carnitine palmitoyl transferase II deficiency, lethal neonatal -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 39. Medium-chain acyl CoA dehydrogenase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 40. Very long-chain acyl-CoA dehydrogenase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 41. Long-chain L-3-hydroxyacyl-CoA dehydrogenase - (trifunctional protein) deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 42. Short-chain acyl CoA dehydrogenase (SCAD) deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 43. Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 44. Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency -- Introduction -- Clinical manifestations -- Genetics and pathogenesis -- Treatment -- References -- 45. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 46. 3-Hydroxy-3-methylglutarylCoA lyase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Part 5: The lactic acidemias and mitochondrial disease -- 47. Introduction to lactic acidemias -- Introduction -- Work up of a patient with congenital lactic acidemia -- Clinical abnormalities -- Pathogenesis -- Treatment -- References -- 48. Pyruvate carboxylase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 49. Fructose-1,6-diphosphatase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 50. Deficiency of the pyruvate dehydrogenase complex -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 51. Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 52. Myoclonic epilepsy and ragged red fiber (MERRF) disease -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 53. Neurodegeneration, ataxia, and retinitis pigmentosa (NARP) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 54. Kearns-Sayre syndrome -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 55. Pearson syndrome -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 56. The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 6: Disorders of carbohydrate metabolism -- 57. Galactosemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 58. Glycogen storage diseases: introduction -- Introduction -- References. |
| 505 8# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 59. Glycogenosis type I - von Gierke disease. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | The fourth edition of this highly regarded book, authored by some of the foremost authorities in pediatric metabolic medicine, provides an invaluable insight into the problems associated with metabolic diseases. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. |
| 588 ## - SOURCE OF DESCRIPTION NOTE | |
| Source of description note | Description based on publisher supplied metadata and other sources. |
| 590 ## - LOCAL NOTE (RLIN) | |
| Local note | Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metabolism-Disorders-Atlases. |
| 655 #4 - INDEX TERM--GENRE/FORM | |
| Genre/form data or focus term | Electronic books. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, Georg F. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| Main entry heading | Nyhan, William L. |
| Title | Atlas of Inherited Metabolic Diseases |
| Place, publisher, and date of publication | Milton : Taylor & Francis Group,c2020 |
| International Standard Book Number | 9781138196599 |
| 797 2# - LOCAL ADDED ENTRY--CORPORATE NAME (RLIN) | |
| Corporate name or jurisdiction name as entry element | ProQuest (Firm) |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=6236323">https://ebookcentral.proquest.com/lib/orpp/detail.action?docID=6236323</a> |
| Public note | Click to View |
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