Inborn Metabolic Disorders- A Comprehensive Overview - Deepak K. Dwivedi, Mukesh Maithani;Hatwal, Deepa;Rawat, CMS
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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…mehr

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Produktbeschreibung
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.
Autorenporträt
Dr. Mukesh Maithani (M. Pharm., PhD, PDCR, FMRC) is presently working as Scientist in MRU, VCSGGIMS&R Srinagar (Garhwal). He is the recipient of Young Scientist Award and Distinguished Scientist Award from different national bodies.He has published more than 50 research papers, 10 books, 15 chapters and editor/reviewer of 30 international journals.