Produkt
KlappentextIn a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to.
The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.
Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Key Features
. Fully updated to incorporate all new developments in the field
. Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others
. Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management
. Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability
The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.
The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.
Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Key Features
. Fully updated to incorporate all new developments in the field
. Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others
. Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management
. Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability
The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.
Details
Weitere ISBN/GTIN9781138196629
ProduktartE-Book
EinbandartE-Book
FormatEPUB
Format Hinweis0 - No protection
Verlag
Erscheinungsjahr2020
Erscheinungsdatum14.07.2020
Auflage4. Auflage
Seiten872 Seiten
SpracheEnglisch
Dateigrösse47824 Kbytes
Illustrationen331 schwarz-weiße und 311 farbige Abbildungen, 119 schwarz-weiße und 297 farbige Fotos, 158 schwarz-weiße und 14 farbige Zeichnungen, 52 schwarz-weiße Tabellen
Artikel-Nr.5236620
Rubriken
Genre9200