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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.
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Inborn Metabolic Disorders- A Comprehensive Overview
Edité par
LAP LAMBERT Academic Publishing, 2020
ISBN 10 : 6202685700
ISBN 13 : 9786202685702
Neuf
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Vendeur : Books Puddle, New York, NY, Etats-Unis
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Inborn Metabolic Disorders- A Comprehensive Overview
Edité par
LAP LAMBERT Academic Publishing, 2020
ISBN 10 : 6202685700
ISBN 13 : 9786202685702
Neuf
Couverture souple
Vendeur : Majestic Books, Hounslow, Royaume-Uni
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Inborn Metabolic Disorders- A Comprehensive Overview
Edité par
LAP LAMBERT Academic Publishing, 2020
ISBN 10 : 6202685700
ISBN 13 : 9786202685702
Neuf
Couverture souple
Vendeur : Biblios, Frankfurt am main, HESSE, Allemagne
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Inborn Metabolic Disorders- A Comprehensive Overview
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LAP LAMBERT Academic Publishing, 2020
ISBN 10 : 6202685700
ISBN 13 : 9786202685702
Neuf
Couverture souple
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Inborn Metabolic Disorders- A Comprehensive Overview
Edité par
LAP LAMBERT Academic Publishing Jul 2020, 2020
ISBN 10 : 6202685700
ISBN 13 : 9786202685702
Neuf
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Taschenbuch. Etat : Neu. 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.Books on Demand GmbH, Überseering 33, 22297 Hamburg 88 pp. Englisch. N° de réf. du vendeur 9786202685702
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Inborn Metabolic Disorders- A Comprehensive Overview
Edité par
LAP LAMBERT Academic Publishing, 2020
ISBN 10 : 6202685700
ISBN 13 : 9786202685702
Neuf
Taschenbuch
Vendeur : AHA-BUCH GmbH, Einbeck, Allemagne
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Taschenbuch. Etat : Neu. nach der Bestellung gedruckt Neuware - Printed after ordering - 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. N° de réf. du vendeur 9786202685702
Quantité disponible : 1 disponible(s)