Inborn Metabolic Disorders- A Comprehensive Overview

Mukesh Maithani Deepak K. Dwivedi

ISBN 10: 6202685700 / ISBN 13: 9786202685702

Published by LAP LAMBERT Academic Publishing Jul 2020, 2020

About this Item

This item is printed on demand - it takes 3-4 days longer - Neuware -Inborn metabolic disorders are rare, but the diseases with which they are associated often have a significant impact on development, growth, and long-term health of affected children. Early detection and intervention are very essential to avoiding disastrous consequences associated with these diseases. Hundreds of disorders have been described until now and there has been a considerable clinical overlap between certain inborn errors. Resulting from this fact, the definite diagnosis of inborn errors depends on enzyme assays or genetic tests. Especially during the recent years, significant achievements have been gained for the biochemical and genetic diagnosis of inborn errors. In addition, if detected and treated early, the clinical outcome for many inborn metabolic disorders can be favorable. Techniques such as tandem mass spectrometry and gas chromatography for biochemical diagnosis and microarrays and next-generation sequencing for the genetic diagnosis have enabled rapid and accurate diagnosis. This monograph provides a comprehensive detail of inborn metabolic disorders with history, etiology, pathogenesis, diagnostic tools, management and future prospective. 88 pp. Englisch.

Seller Inventory # 9786202685702

Bibliographic Details

• Title: Inborn Metabolic Disorders- A Comprehensive Overview
• Publisher: LAP LAMBERT Academic Publishing Jul 2020
• Publication Date: 2020
• Language: English
• ISBN 10: 6202685700
• ISBN 13: 9786202685702
• Binding: Taschenbuch
• Condition: Neu
• Dimensions: 220W x 150H x 6D millimeters 220 millimeters width by 150 millimeters height by 6 millimeters depth
• Weight: 149 grams

About this title

Synopsis

Inborn metabolic disorders are rare, but the diseases with which they are associated often have a significant impact on development, growth, and long-term health of affected children. Early detection and intervention are very essential to avoiding disastrous consequences associated with these diseases. Hundreds of disorders have been described until now and there has been a considerable clinical overlap between certain inborn errors. Resulting from this fact, the definite diagnosis of inborn errors depends on enzyme assays or genetic tests. Especially during the recent years, significant achievements have been gained for the biochemical and genetic diagnosis of inborn errors. In addition, if detected and treated early, the clinical outcome for many inborn metabolic disorders can be favorable. Techniques such as tandem mass spectrometry and gas chromatography for biochemical diagnosis and microarrays and next-generation sequencing for the genetic diagnosis have enabled rapid and accurate diagnosis. This monograph provides a comprehensive detail of inborn metabolic disorders with history, etiology, pathogenesis, diagnostic tools, management and future prospective.