A clinical guide to inherited metabolic diseases:
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic throug...
Saved in:
| Main Author: | |
|---|---|
| Format: | Electronic eBook |
| Language: | English |
| Published: |
Cambridge
Cambridge University Press
2006
|
| Edition: | Third edition |
| Subjects: | |
| Online Access: | BSB01 FHN01 Volltext |
| Summary: | This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments |
| Item Description: | Title from publisher's bibliographic system (viewed on 05 Oct 2015) |
| Physical Description: | 1 online resource (xx, 338 pages) |
| ISBN: | 9780511544682 |
| DOI: | 10.1017/CBO9780511544682 |
Staff View
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| 505 | 8 | |a Ch. 1. General principles -- Ch. 2. Neurologic syndrome -- Ch. 3. Metabolic acidosis -- Ch. 4. Hepatic syndrome -- Ch. 5. Cardiac syndromes -- Ch. 6. Storage syndromes and dysmorphism -- Ch. 7. Acute metabolic illness in the newborn -- Ch. 8. New born screening -- Ch. 9. Laboratory investigation -- Ch. 10. Treatment | |
| 520 | |a This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments | ||
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| contents | Ch. 1. General principles -- Ch. 2. Neurologic syndrome -- Ch. 3. Metabolic acidosis -- Ch. 4. Hepatic syndrome -- Ch. 5. Cardiac syndromes -- Ch. 6. Storage syndromes and dysmorphism -- Ch. 7. Acute metabolic illness in the newborn -- Ch. 8. New born screening -- Ch. 9. Laboratory investigation -- Ch. 10. Treatment |
| ctrlnum | (ZDB-20-CBO)CR9780511544682 (OCoLC)850296085 (DE-599)BVBBV043942921 |
| dewey-full | 616.3/9 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.3/9 |
| dewey-search | 616.3/9 |
| dewey-sort | 3616.3 19 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| doi_str_mv | 10.1017/CBO9780511544682 |
| edition | Third edition |
| format | Electronic eBook |
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| illustrated | Not Illustrated |
| indexdate | 2024-07-10T07:39:18Z |
| institution | BVB |
| isbn | 9780511544682 |
| language | English |
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| physical | 1 online resource (xx, 338 pages) |
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| spelling | Clarke, Joe T. R. Verfasser aut A clinical guide to inherited metabolic diseases Joe T.R. Clarke Third edition Cambridge Cambridge University Press 2006 1 online resource (xx, 338 pages) txt rdacontent c rdamedia cr rdacarrier Title from publisher's bibliographic system (viewed on 05 Oct 2015) Ch. 1. General principles -- Ch. 2. Neurologic syndrome -- Ch. 3. Metabolic acidosis -- Ch. 4. Hepatic syndrome -- Ch. 5. Cardiac syndromes -- Ch. 6. Storage syndromes and dysmorphism -- Ch. 7. Acute metabolic illness in the newborn -- Ch. 8. New born screening -- Ch. 9. Laboratory investigation -- Ch. 10. Treatment This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments Metabolism, Inborn errors of Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s 1\p DE-604 Erscheint auch als Druckausgabe 978-0-521-61499-3 https://doi.org/10.1017/CBO9780511544682 Verlag URL des Erstveröffentlichers Volltext 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Clarke, Joe T. R. A clinical guide to inherited metabolic diseases Ch. 1. General principles -- Ch. 2. Neurologic syndrome -- Ch. 3. Metabolic acidosis -- Ch. 4. Hepatic syndrome -- Ch. 5. Cardiac syndromes -- Ch. 6. Storage syndromes and dysmorphism -- Ch. 7. Acute metabolic illness in the newborn -- Ch. 8. New born screening -- Ch. 9. Laboratory investigation -- Ch. 10. Treatment Metabolism, Inborn errors of Stoffwechselkrankheit (DE-588)4057700-4 gnd Angeborene Krankheit (DE-588)4331107-6 gnd |
| subject_GND | (DE-588)4057700-4 (DE-588)4331107-6 |
| title | A clinical guide to inherited metabolic diseases |
| title_auth | A clinical guide to inherited metabolic diseases |
| title_exact_search | A clinical guide to inherited metabolic diseases |
| title_full | A clinical guide to inherited metabolic diseases Joe T.R. Clarke |
| title_fullStr | A clinical guide to inherited metabolic diseases Joe T.R. Clarke |
| title_full_unstemmed | A clinical guide to inherited metabolic diseases Joe T.R. Clarke |
| title_short | A clinical guide to inherited metabolic diseases |
| title_sort | a clinical guide to inherited metabolic diseases |
| topic | Metabolism, Inborn errors of Stoffwechselkrankheit (DE-588)4057700-4 gnd Angeborene Krankheit (DE-588)4331107-6 gnd |
| topic_facet | Metabolism, Inborn errors of Stoffwechselkrankheit Angeborene Krankheit |
| url | https://doi.org/10.1017/CBO9780511544682 |
| work_keys_str_mv | AT clarkejoetr aclinicalguidetoinheritedmetabolicdiseases |