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Inherited metabolic diseases : a clinical approach

Author: Georg F Hoffmann; Johannes Zschocke; William L Nyhan
Publisher: Heidelberg ; New York : Springer, 2009.
Edition/Format:   eBook : Document : EnglishView all editions and formats
Database:WorldCat
Summary:
The explosion of insights in the field of metabolic disease has shed light on diagnostic as well as treatment options. This book presents an overview of the major groups of metabolic disorders. It presents clinical and diagnostic details with a system and symptom based to facilitate an efficient diagnostic work-up of individual patients.
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Genre/Form: Electronic books
Additional Physical Format: Print version:
Inherited metabolic diseases.
Heidelberg : Springer, ©2010
(DLC) 2009931335
(OCoLC)432409290
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Georg F Hoffmann; Johannes Zschocke; William L Nyhan
ISBN: 9783540747239 3540747230
OCLC Number: 567359146
Description: 1 online resource (xiv, 620) : illustrations
Contents: Disorders of intermediary metabolism --
Disorders of the biosynthesis and breakdown of complex molecules --
Neurotransmitter defects and related disorders --
When to suspect metabolic disease --
Metabolic emergencies --
Metabolic emergencies: work-up of the patient with metabolic acidosis and massive ketosis --
Metabolic emergencies: work-up of the patient with lactic academia: mitochondrial disease --
Metabolic emergencies: work-up of the patient with hypoglycemia --
Metabolic emergencies: approach to the child suspected of having a disorder of fatty acid oxidation --
Metabolic emergencies: work-up of the patient with hyperammonemia --
Metabolic emergencies: work-up of the patient with acute neurological or psychiatric manifestations --
Metabolic emergencies: emergency treatment of inherited metabolic diseases. Patient care and treatment --
Anesthesia and metabolic disease --
Approach to the patient with cardiovascular disease --
Liver disease --
Gastrointestinal and general abdominal symptoms --
Kidney disease and electrolyte disturbances --
Neurological disease --
Metabolic myopathies --
Psychiatric disease --
Eye disorders --
Skin and hair disorders --
Physical abnormalities in metabolic diseases --
Hematological disorders --
Immunological problems --
Newborn screening for inherited metabolic disease --
Biochemical studies --
Enzymes, metabolic pathways, flux control analysis, and the enzymology of specific groups of inherited metabolic disease --
DNA studies --
Pathology: biopsy --
Suspected mitochondrial disorder --
Postmortem investigations --
Function tests --
Family issues, carrier tests, and prenatal diagnosis.
Responsibility: Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan (eds.).

Abstract:

This is a concise guide to the diagnosis and initial management of patients with metabolic diseases. Containing an extensive amount of graphs and an expanded index, it will help the reader to rapidly  Read more...

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From the reviews: "The authors have written a reader friendly and instructive textbook which is divided into 5 parts. ... Highly illustrated with many tables. ... An updated, very useful text." Read more...

 
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