William L. Nyhan, Bruce A. Barshop, and Pinar T. Ozand.
EDITION STATEMENT
Edition Statement
2nd ed.
.PUBLICATION, DISTRIBUTION, ETC
Place of Publication, Distribution, etc.
New York, NY :
Name of Publisher, Distributor, etc.
Distributed in the United States of America by Oxford University Press,
Date of Publication, Distribution, etc.
2005.
PHYSICAL DESCRIPTION
Specific Material Designation and Extent of Item
xii, 788 pages :
Other Physical Details
illustrations ;
Dimensions
28 cm
INTERNAL BIBLIOGRAPHIES/INDEXES NOTE
Text of Note
Includes bibliographical references and indexes.
CONTENTS NOTE
Text of Note
Organic acidemias -- Disorders of amino acid metabolism -- Hyperammonemia and disorders of the urea cycle -- Disorders of fatty acid oxidation -- The lactic acidemias and mitochonrdial disease -- Disorders of carbohydrate metabolism -- Perioxisomal disorders -- Disorders of purine metabolism -- Disorders of transport and mineral metabolism -- Mucopolysaccharidoses -- Mucolipidoses -- Disorders of cholesterol and neutral lipid metabolism -- Lipid storage disorders -- Miscellaneous.
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SUMMARY OR ABSTRACT
Text of Note
For ease of reference, this volulme 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 management issues. 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.