| Description |
1 online resource (658 pages) : illustrations |
| 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 |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| Subject |
Metabolism, Inborn errors of.
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Metabolism, Inborn Errors -- diagnosis
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Metabolism, Inborn Errors
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Metabolism, Inborn Errors -- therapy
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Metabolism, Inborn errors of
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| Form |
Electronic book
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| Author |
Saudubray, J. M. (Jean-Marie), 1937- editor.
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Baumgartner, Matthias R., editor
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Walter, John (John Hugh), editor.
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| ISBN |
9783662497715 |
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3662497719 |
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