Inborn Metabolic Diseases: Diagnosis and Treatment 2016 Edition (2016) (PDF) by Jean-Marie Saudubray

Description

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.

User’s Reviews

Review “Inborn Metabolic Diseases: Diagnosis and Treatment remains one of the standard textbooks for professionals working in inborn metabolic medicine and biochemical genetics. … Inborn Metabolic Diseases: Diagnosis and Treatment gives an excellent and most up to date overview and deep insight on a rapidly evolving specialty with a steadily growing number of patients, most of them now growing-up and reaching adulthood, and is, therefore, informative for experts as well as for those who seek to become one.” (Ulrike Mütze, Journal of Inherited Metabolic Disease, Vol. 40, 2017)

Reviews from Amazon users, collected at the time the book is getting published on UniedVRG. It can be related to shiping or paper quality instead of the book content:

⭐ Good

⭐ Very well written.

⭐ There are usually few words to describe the best.Unfortunately it was not available anymore in Canada so I had to order it in the US…

⭐ Inborn Metabolic Diseases, Diagnosis and Treatment written by Saudubray, van den Berghe and Walter is a 656 page book. Internationally recognized experts on their subjects contributed to the 5th edition. The content of the book is:Diagnosis and Treatment: General PrinciplesDisorders of Carbohydrate MetabolismDisorders of Mitochondrial Energy MetabolismDisorders of Amino Acid Metabolism and TransportVitamin-Responsive DisordersNeurotransmitter and Small Peptide DisodersLipid Bile and acid MetabolismDisorders of Nucleic Acid and Heme MetabolismDisorders of Metal and TransportOrganelle-related Disoders; Lysosomes, Peroxisomes, and Golgi and Pre-Golgi SystemsEach disease related chapter includes comprehensively a case presentation, followed by diagnostic approaches, and treatment. New modes of treatment as well as psychological aspects are included in most of the chapters. This book is awesome and indispensable for everyone seeking a detailed work on inborn metabolic diseases. Finally this clinical book helped me understand inborn metabolic diseases. Thank you.Paul Schumacher, Harvard Medical School, Boston, March 2012

⭐ Very good book.

Keywords

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Inborn Metabolic Diseases: Diagnosis and Treatment 2016 Edition 2016 PDF Free Download
Download Inborn Metabolic Diseases: Diagnosis and Treatment 2016 Edition PDF
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