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Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm Jean-Marie Saudubray,Georges Berghe,John H. Walter Book 20125th edition Springer-Verlag Ber

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书目名称Inborn Metabolic Diseases
副标题Diagnosis and Treatm
编辑Jean-Marie Saudubray,Georges Berghe,John H. Walter
视频video
概述Being up to date: Status Quo and Trends of Treatment.Standard textbook in this interdisciplinary field.Extensively revised and updated.Including errors affecting adults.Includes supplementary material
图书封面Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm Jean-Marie Saudubray,Georges Berghe,John H. Walter Book 20125th edition Springer-Verlag Ber
描述.Being up to Date: Status Quo and Trends of Treatment.For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated..What´s new.-          Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations.-          Numerous updates on diagnostic procedures and treatment.-          Newly discovered disorders..As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on di
出版日期Book 20125th edition
关键词disorders of metabolism; inborn errors of metabolism; inherited metabolic diseases; metabolic diseases;
版次5
doihttps://doi.org/10.1007/978-3-642-15720-2
isbn_ebook978-3-642-15720-2
copyrightSpringer-Verlag Berlin Heidelberg 2012
The information of publication is updating

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Diagnostic Procedures: Functional Tests and Post-mortem Protocolt give rise to toxicity or energy deficiency. The best functional test is elicited by nature itself during episodes that cause metabolic stress, including acute infection, inadvertent fasting, or consumption of a nutrient that induces a metabolic intolerance. If an inherited metabolic disease is sus
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Emergency Treatmentspresentation and the management depend mainly on the pathophysiology involved. This chapter focuses on the main clinical presentations in neonates and children with those inborn errors of metabolism for which emergency treatment may be life saving and outlines the first steps of such treatment up to
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The Glycogen Storage Diseases and Related Disordersresent with hypoglycaemia, marked hepatomegaly, and retarded growth [6]. GSD I is the most severe of these four conditions, because both glycogenolysis and gluconeogenesis are impaired. Patients with GSD III have a syndrome that includes hepatopathy, myopathy and often cardiomyopathy. Unlike the oth
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Disorders of Fructose Metabolism fructose in the urine after the intake of fructose-containing food. In . (HFI), fructose may provoke prompt gastrointestinal discomfort and hypoglycaemia upon ingestion, symptoms that may vary from patient to patient and depend on the ingested dose. Fructose may cause liver and kidney failure when
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Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycleynthesis, defects in pyruvate metabolism and in the TCA cycle almost invariably affect the central nervous system. The severity and the different clinical phenotypes vary widely among patients and are not always specific, the range of manifestations extending from overwhelming neonatal lactic acidos
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