Table of Contents

Diagnosis.- Simple tests; Amino acid analysis; Organic acid analysis; Misc. analyses; Tandem mass spectrometry; Proton NMR spectroscopy. Disorders.- Phenylalanine, tetrahydrobiopterin metab.; Neurotransmitter metab.; GABA, serine, glycine, prolin; Tyrosinemias; Histidine metab.; Leucine metab.; Isoleucine-valine metab.; Organic acidurias; Gamma-glutamyl cycle; Sulfur amino acids; Inher. hyperamonemias; Ornitine, lysine, tryptopha; Defect. transport of amino acids; Fatty acids beta-oxidation; Carbohydrates, glycogen disorders; Glucose transport; Glycerol metab.; Mucopolysaccharidoses; Oligosaccharidoses, related disorders; Congenital disorders glycosylation; Cystinosis; Storage disorders; Purine, pyrimidine; Creatine synthesis, transport defects; Peroxisomal disorders; Hyperoxalurias; Mitochondrial disorders; Genetic dyslipoproteinemias; Steroid synthesis, metab.; Inborn errors cholesterol biosynthesis; Porphyrias; Bile acid synthesis; Cu, Zn, Fe metab.; Leukotrienes.

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2nd edition

Reviews

From the reviews of the second edition: "This book provides a summary text which condenses a wealth of information into a readily accessible form. ! All paediatricians could benefit by using this book as an authoritative summary on metabolic disease. ! The book would also be of great value to scientists and chemical pathologists working in the field of paediatric clinical biochemistry. ! I found this book to be an excellence reference text that would be a very appropriate addition to any paediatrician's library." (JC Coakley, Journal of Paediatrics and Child Health, Vol. 39 (8), 2003) "This book, aimed at clinicians and laboratory personnel, describes the pathogenesis, clinical characteristics and laboratory diagnosis of the many known metabolic diseases. ! The text is concise with many tables and figures. ! A CD-ROM is included in this edition, helping the user to find diseases, using key words. A very useful book for every pediatric department." (Journal of Pediatric Endocrinology & Metabolism, Vol. 16 (2), 2003)