Health problems related to newborns are always concerned. Congenital diseases, especially congenital metabolic diseases. Will be presented in depth in Inborn Metabolic Diseases 6th Edition. It contains knowledge from basic to intensive in this area: diagnosis and treatment.

This medical books free pdf for researchers in genetics, genetic biochemistry and related industry studies. Genetic-related metabolic diseases are analyzed for genes to detect [td_smart_list_end]abnormalities in the genome, which explain the clinical changes in children with congenital diseases that were previously unexplained.

These modern analytical techniques combine with other clinical, subclinical symptoms such as biochemistry to help researchers and clinicians choose the appropriate treatment intervention.

Summary about Inborn Metabolic Diseases 6th Edition

Medical Book Name Inborn Metabolic Diseases, Sixth Edition
Authors Jean-Marie Saudubray (Editor), Matthias R. Baumgartner (Editor), John H. Walter (Editor)
Publisher Springer; 6th ed. 2016 edition (December 8, 2016)
Hard Cover 658 Pages
Language English

Inborn Metabolic Diseases 6th Edition

From the Back Cover

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 of Inborn Metabolic Diseases 6th Edition

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 of Inborn Metabolic Diseases 6th Edition

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. He is Head of the Division of Metabolism and the Swiss Newborn Screening Programme. Work 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.


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