Inborn Metabolic Diseases PDF

Rating: Author: ISBN : Product Detai New from Format: PDF

Download PRETITLE Inborn Metabolic Diseases POSTTITLE from 4shared, mediafire, hotfile, and mirror linkBeing up to Date: Status Quo and Trends of TreatmentFor 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.Direct download links available for PRETITLE Inborn Metabolic Diseases POSTTITLE

• Product Details
• Table of Contents
• Reviews

• File Size: 13680 KB
• Print Length: 656 pages
• Publisher: Springer; 5th ed. 2012 edition (April 11, 2013)
• Sold by: Amazon Digital Services, Inc.
• Language: English
• ASIN: B00DGER94M
• Text-to-Speech: Not enabled
• X-Ray:
  Not Enabled
• Lending: Not Enabled
• Amazon Best Sellers Rank: #609,951 Paid in Kindle Store (See Top 100 Paid in Kindle Store)
  • #89 in Kindle Store > Kindle eBooks > Nonfiction > Professional & Technical > Medical eBooks > Basic Science > Genetics
• #89 in Kindle Store > Kindle eBooks > Nonfiction > Professional & Technical > Medical eBooks > Basic Science > Genetics

Inborn Metabolic Diseases PDF

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 Principles
Disorders of Carbohydrate Metabolism
Disorders of Mitochondrial Energy Metabolism
Disorders of Amino Acid Metabolism and Transport
Vitamin-Responsive Disorders
Neurotransmitter and Small Peptide Disoders
Lipid Bile and acid Metabolism
Disorders of Nucleic Acid and Heme Metabolism
Disorders of Metal and Transport
Organelle-related Disoders; Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems

Each 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

By Medical student

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...

By Llouis