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Title Inborn metabolic diseases : diagnosis and treatment / Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (eds.).
Imprint Berlin : Springer, [2016]
Edition Sixth edition.

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Subject Metabolism, Inborn errors of.
Metabolism, Inborn Errors -- diagnosis.
Metabolism, Inborn Errors -- therapy.
Alt Name Saudubray, J. M. (Jean-Marie), 1937-
Baumgartner, Matthias R.,
Walter, John (John Hugh),
Description 1 online resource (658 pages) : illustrations
polychrome rdacc
Edition Sixth edition.
Bibliography Note Includes bibliographical references and index.
Contents Section I. Diagnosis and Treatment: General Principles -- Section II. Disorders of Carbohydrate Metabolism -- Section III. Disorders of Mitochondrial Energy Metabolism -- Section IV. Disorders of Amino Acid Metabolism and Transport -- Section V. Vitamin-Responsive Disorders -- Section VI. Neurotransmitter and Small Peptide Disorders -- Section VII. Disorders of Lipid and Bile Acid Metabolism -- Section VIII. Disorders of Nucleic and Heme Metabolism -- Section IX. Disorders of Metal Transport -- Section X. Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- Section XI. Appendix.
Summary This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas.
Note Print version record.
ISBN 9783662497715 (electronic book)
3662497719 (electronic book)
9783662497692 (cloth)
3662497697 (cloth)
OCLC # 962750879
Additional Format Print version: Inborn metabolic diseases. 6th edition. Berlin : Springer, [2016] (DLC) 2016944613 (OCoLC)942379971

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