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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. Contents A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications. Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles. Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included. The Editors Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris. Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich. John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.

Medicine. --- Human genetics. --- Endocrinology. --- Neurology. --- Pediatrics. --- Medicine & Public Health. --- Human Genetics. --- Paediatrics --- Pediatric medicine --- Clinical sciences --- Medical profession --- Metabolism --- Disorders. --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Medicine --- Nervous system --- Neuropsychiatry --- Internal medicine --- Hormones --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Children --- Health and hygiene --- Endocrinology . --- Neurology .

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Paediatrics --- Human genetics --- Pathological endocrinology --- Neuropathology --- medische genetica --- hersenen --- endocrinologie --- genetica --- pediatrie

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Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What´s new -          Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations -          Numerous updates on diagnostic procedures and treatment -          Newly discovered disorders. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.

Paediatrics --- Human genetics --- Pathological endocrinology --- Neuropathology --- medische genetica --- hersenen --- endocrinologie --- genetica --- pediatrie --- Metabolism, Inborn Errors. --- Metabolism, Inborn errors of. --- Maladies héréditaires métaboliques --- EPUB-LIV-FT LIVMEDEC SPRINGER-B