9780340809709

Atlas of Metabolic Diseases

by ; ;
  • ISBN13:

    9780340809709

  • ISBN10:

    0340809701

  • Edition: 2nd
  • Format: Hardcover
  • Copyright: 2005-09-29
  • Publisher: Hodder Education Publishers
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Summary

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to referto. The second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general managementissues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring.

Author Biography

Pinar T. Ozand is Chairman, Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Table of Contents

Organic acidemiasp. 1
Disorders of amino acid metabolismp. 109
Hyperammonemia and disorders of the urea cyclep. 191
Disorders of fatty acid oxidationp. 239
The lactic acidemias and mitochondrial diseasep. 301
Disorders of carbohydrate metabolismp. 371
Peroxisomal disordersp. 409
Disorders of purine metabolismp. 429
Disorders of transport and mineral metabolismp. 463
Mucopolysaccharidosesp. 499
Mucolipidosesp. 551
Disorders of cholesterol and neutral lipid metabolismp. 567
Lipid storage disordersp. 591
Miscellaneousp. 697
Table of Contents provided by Blackwell. All Rights Reserved.

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