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" Atlas of metabolic diseases / "
William L. Nyhan, Bruce A. Barshop, and Pinar T. Ozand.
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BL
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| Record Number
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1025557
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| Doc. No
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b779927
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| Main Entry
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Nyhan, William L.,1926-
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| Title & Author
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Atlas of metabolic diseases /\ William L. Nyhan, Bruce A. Barshop, and Pinar T. Ozand.
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| Edition Statement
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2nd ed.
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| Publication Statement
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London :: Hodder Arnold ;New York, NY :: Distributed in the United States of America by Oxford University Press,, 2005.
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| Page. NO
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xii, 788 pages :: illustrations ;; 28 cm
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| ISBN
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0340809701
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: 9780340809709
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| Bibliographies/Indexes
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Includes bibliographical references and indexes.
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| Contents
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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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| Abstract
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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.
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| Subject
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Metabolic disorders in children, Atlases.
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Metabolism-- Disorders, Atlases.
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Metabolism, Inborn errors of, Atlases.
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Metabolic disorders in children.
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Metabolism-- Disorders.
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Metabolism, Inborn errors of.
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Stoffwechselkrankheit
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Atlas.
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Metabolism, Inborn Errors.
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Stofwisselingsziekten.
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| Dewey Classification
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616.39
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| LC Classification
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RJ390.N94 2005
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| NLM classification
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2005 L-699
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WD 205N994a 2005
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44.77bcl
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MED 441bstub
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YC 6100rvk
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YC 6202rvk
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| Added Entry
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Barshop, Bruce Allen.
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Ozand, Pinar T.
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