Inherited Metabolic Diseases (Post nr. 3854)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04897nam a22005655i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 60520 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20200226102421.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 160920s2017 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9783662494103 |
| -- | 978-3-662-49410-3 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-3-662-49410-3 |
| Source of number or code | doi |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (DE-He213)978-3-662-49410-3 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RJ1-570 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MJW |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MED069000 |
| Source | bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 618.92 |
| Edition number | 23 |
| 245 10 - TITLE STATEMENT | |
| Title | Inherited Metabolic Diseases |
| Medium | [electronic resource] : |
| Remainder of title | A Clinical Approach / |
| Statement of responsibility, etc. | edited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 2nd ed. 2017. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Berlin, Heidelberg : |
| Name of producer, publisher, distributor, manufacturer | Springer Berlin Heidelberg : |
| -- | Imprint: Springer, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2017. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | XVII, 605 p. 80 illus., 34 illus. in color. |
| Other physical details | online resource. |
| 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 |
| 347 ## - DIGITAL FILE CHARACTERISTICS | |
| File type | text file |
| Encoding format | |
| Source | rda |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Introduction to Inborn Errors of Metabolism: Disorders of Intermediary Metabolism -- Mitochondriopathies Neurotransmitter Defects.-Disorders of the Biosynthesis and Breakdown of Complex Molecules. Approach to the Patient: When to Suspect Metabolic Disease -- Patient Care and Treatment -- Metabolic Emergencies -- Anesthesia and Metabolic Disease -- Principles of Dietary Therapy -- Principles of Enzyme Replacement Therapy -- Principles of Gene Therapy. Organ Systems in Metabolic Disease: Cardiovascular Disease -- Liver Disease -- Gastrointestinal and General Abdominal Symptoms -- Kidney Disease and Electrolyte Disturbances -- Neurological Disease -- Metabolic Myopathies -- Psychiatric Disease -- Eye Disorder -- Skin and Hair Disorders -- Bone Disorders -- Physical Abnormalities in Metabolic Diseases -- Hematological Disorders -- Immunological Problems. Investigations for Metabolic Diseases: Newborn Screening -- Biochemical Studies -- Enzymes, Metabolic Pathways, Flux Control Analysis and the Enzymology of Specific Groups of Inherited Metabolic Diseases -- Molecular Investigations (DNA Studies) -- Pathology / Biopsy -- Postmortem Investigations -- Neuroimaging -- Function Tests -- Suspected Mitochondrial Disorder. Appendix: Differential Diagnosis of Clinical and Biochemical Phenotypes -- Reference Books -- E3 Internet Resources. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | General practice (Medicine). |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Internal medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pathology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pediatrics. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Medicine & Public Health. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pediatrics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Internal medicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | General Practice / Family Medicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurology. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pathology. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Human genetics. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, Georg F. |
| Relator term | editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zschocke, Johannes. |
| Relator term | editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nyhan, William L. |
| Relator term | editor. |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9783662494080 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="http://dx.doi.org/10.1007/978-3-662-49410-3">http://dx.doi.org/10.1007/978-3-662-49410-3</a> |
| 912 ## - | |
| -- | ZDB-2-SME |
Inga exemplar finns tillgängliga.