Inborn Metabolic Diseases: Diagnosis and Treatment, Sixth Edition

Inborn Metabolic Diseases: Diagnosis and Treatment, Sixth Edition

Springer | Pediatrics | December 8. 2016 | ISBN-10: 3662497697 | 658 Pages | PDF | 7.28 MB

Editors: Saudubray, Jean-Marie, Baumgartner, Matthias R., Walter, John (Eds.)
Essential resource in the interdisciplinary field of inborn metabolic diseases
Indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology
Written by internationally recognised experts on their subjects

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.

Number of Pages
XXXI, 658
Human Genetics


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