Inherited Metabolic Diseases: A Clinical Approach - Second Edition
Inherited Metabolic Diseases: A Clinical Approach - Second Edition
Published: 2016
Editors: Hoffmann, Georg F., Zschocke, Johannes, Nyhan, William L.
2nd ed. 2016, XVII, 590 p. 80 illus., 34 illus. in colour. With online files/update
ISBN 978-3-662-49771-5
Provides clear guidance on diagnosis and initial management of patients with metabolic diseases
Helps physicians to reach correct diagnoses, reducing unnecessary referrals
Offers a valuable, quick reference for metabolic and genetic specialists
Contains helpful algorithms and a compendium of differential diagnoses
Written by renowned experts in the field
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Inherited Metabolic Disease in Adults
Inherited Metabolic Disease in Adults
Published: 2016
A Clinical Guide
Edited by Carla E. M. Hollak and Robin Lachmann
Published: 18 August 2016; 672 Pages;
279x216mm; ISBN: 9780199972135
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.
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Inborn Metabolic Diseases - Diagnosis and Treatment
Inborn Metabolic Diseases - Diagnosis and Treatment
Published: 2016
J.-M. Saudubray, M.R. Baumgartner, J.H. Walter (Eds.)6th ed. 2016, Approx. 670 p. 81 illus., 69 illus. in color. Hardcover, ISBN 978-3-662-49769-2
A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications.
Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles.
Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
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2009
Prof Dr Ute Spiekerkoetter
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2010
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