Overview

Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.

Full Product Details

Author:   Charles R. Scriver ,  Nenad Blau ,  M. Duran ,  M.E. Blaskovics
Publisher:   Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
Imprint:   Springer-Verlag Berlin and Heidelberg GmbH & Co. K
Edition:   2nd Revised edition
Dimensions:   Width: 19.30cm , Height: 3.50cm , Length: 24.20cm
Weight:   1.560kg
ISBN:  

9783540425427

ISBN 10:   354042542
Pages:   753
Publication Date:   May 2002
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Mixed media product
Publisher's Status:   Out of Stock Indefinitely
Availability:   In Print  
Limited stock is available. It will be ordered for you and shipped pending supplier's limited stock.

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.

Reviews

From the reviews of the second edition: <p> This book provides a summary text which condenses a wealth of information into a readily accessible form. a ] All paediatricians could benefit by using this book as an authoritative summary on metabolic disease. a ] The book would also be of great value to scientists and chemical pathologists working in the field of paediatric clinical biochemistry. a ] I found this book to be an excellence reference text that would be a very appropriate addition to any paediatriciana (TM)s library. (JC Coakley, Journal of Paediatrics and Child Health, Vol. 39 (8), 2003) <p> This book, aimed at clinicians and laboratory personnel, describes the pathogenesis, clinical characteristics and laboratory diagnosis of the many known metabolic diseases. a ] The text is concise with many tables and figures. a ] 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)

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