Inborn Metabolic Disorders- A Comprehensive Overview - Brossura

Deepak K. Dwivedi, Mukesh Maithani; Hatwal, Deepa; Rawat, CMS

Brossura

ISBN 10: 6202685700 ISBN 13: 9786202685702

Casa editrice: LAP LAMBERT Academic Publishing, 2020

Riassunto

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.

Dettagli dell'edizione

• Editore: LAP LAMBERT Academic Publishing
• Data di pubblicazione: 2020
• Lingua: Inglese
• ISBN 10: 6202685700
• ISBN 13: 9786202685702
• Rilegatura: Copertina flessibile
• Numero di pagine: 88
• Contatto del produttore: non disponibile
• Persona responsabile: KreGa Onlinehandel GmbH; 4950000000000; info@krega-onlinehandel.de; ; Birkenweg 31; Brakel; 33034; Germania