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Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes,Jean-Marie Saudubray,John H. Walter Book 20064th edition Springer-Verlag Ber

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書目名稱Inborn Metabolic Diseases
副標題Diagnosis and Treatm
編輯John Fernandes,Jean-Marie Saudubray,John H. Walter
視頻videohttp://file.papertrans.cn/464/463192/463192.mp4
概述Main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.Clinical approach is the starting point for each chapter.Reference to diagnostic options.Inclu
圖書封面Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes,Jean-Marie Saudubray,John H. Walter Book 20064th edition Springer-Verlag Ber
描述Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute present
出版日期Book 20064th edition
關(guān)鍵詞Internist; inborn errors of metabolism; metabolic disease; metabolic diseases; metabolic disorder; metabo
版次4
doihttps://doi.org/10.1007/978-3-540-28785-8
isbn_ebook978-3-540-28785-8
copyrightSpringer-Verlag Berlin Heidelberg 2006
The information of publication is updating

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Disorders of Glucose Transportlucose and galactose carrier within liver, kidney and pancreatic β-cells. Patients typically present with a combination of hepatic glycogen storage and a generalized renal tubular dysfunction which includes severe glucosuria.
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Book 20064th editionpensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clini
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reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute present978-3-540-28785-8
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G. Peter A. Smit,Jan Peter Rake,Hasan O. Akman,Salvatore DiMauro
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