Inherited metabolic disease

Robert C. Tasker, Robert J. McClure and Carlo L. Acerini

in Oxford Handbook of Paediatrics

Second edition

Published on behalf of Oxford University Press

Published in print January 2013 | ISBN: 9780199608300
Published online January 2013 | e-ISBN: 9780191742712 | DOI:

Series: Oxford Medical Handbooks

Inherited metabolic             disease

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General principles - Metabolic syndromes: neurological - Metabolic syndromes: metabolic acidosis - Metabolic syndromes: storage dysmorphism - Metabolic syndromes: hepatic syndromes - Metabolic syndromes: cardiac syndromes - Urea cycle disorders - Disorders of amino acid metabolism - Disorders of organic acid metabolism - Disorders of carbohydrate metabolism - Disorders of lipoprotein metabolism - Lysosomal storage diseases - Disorders of fatty acid oxidation - Mitochondrial disorders - Peroxisomal disorders - Disorders of nucleotide metabolism - Disorders of porphyrin metabolism - Disorders of metal metabolism and transport -

Chapter.  4915 words. 

Subjects: Paediatrics

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