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Inborn Metabolic Diseases - Diagnosis and Treatment (Hardcover, 6th Ed. 2016)
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Inborn Metabolic Diseases - Diagnosis and Treatment (Hardcover, 6th Ed. 2016)
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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.
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