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Inborn Metabolic Diseases
Diagnosis and Treatment
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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 6 th 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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