Inherited metabolic diseases : a clinical approach / Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors.
Hoffmann, Georg F. (Georg Friedrich), editor.; Zschocke, Johannes, editor.; Nyhan, William L., 1926- editor.
2017
RC627.8
Available Online

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Title Inherited metabolic diseases : a clinical approach / Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors.
Uniform Title Inherited metabolic diseases (Springer)
Preceded by: Inherited metabolic diseases.
Edition Second edition.
ISBN 9783662494103 (electronic book)
3662494108 (electronic book)
9783662494080 (hardcover)
3662494086 (hardcover)
DOI https://doi.org/10.1007/978-3-662-49410-3
Published Heidelberg : Springer, [2017]
Copyright ©2017
Language English
Description 1 online resource (xviii, 605 pages) : illustrations.
Item Number 10.1007/978-3-662-49410-3 doi
Call Number RC627.8
Dewey Decimal Classification 616.3/9042
Summary "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"--Publisher's description.
Note Revised edition of: Inherited metabolic diseases : a clinical approach / edited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan. ©2010.
Bibliography, etc. Note Includes bibliographical references and index.
Access Note Access limited to authorized users.
Digital File Characteristics text file PDF
Source of Description Online resource; title from pdf title page (SpringerLink, viewed March 21, 2017).
Added Author Hoffmann, Georg F. (Georg Friedrich), editor.
Zschocke, Johannes, editor.
Nyhan, William L., 1926- editor.
Available in Other Form Inherited metabolic diseases.
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Record Appears in Online Resources > Ebooks
All Resources
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.

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