INBORN METABOLIC DISEASES - DIAGNOSIS AND TREATMENT IN SOUTH AFRICA

This item is sold brand new. It is ordered on demand from our supplier and is usually dispatched within 7 - 15 working days This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: 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. Features Summary This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field... Author Jean-Marie Saudubray (Editor), Matthias R. Baumgartner (Editor), John Walter (Editor) Publisher Springer-Verlag Release date 20161118 Pages 658 ISBN 3-662-49769-7 ISBN 13 978-3-662-49769-2