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Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes (Professor Emeritus of Pediatrics), Book 20003rd edition Springer-Verlag Ber

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發(fā)表于 2025-3-21 18:34:47 | 只看該作者 |倒序?yàn)g覽 |閱讀模式
書(shū)目名稱(chēng)Inborn Metabolic Diseases
副標(biāo)題Diagnosis and Treatm
編輯John Fernandes (Professor Emeritus of Pediatrics),
視頻videohttp://file.papertrans.cn/464/463197/463197.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(shū)封面Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes (Professor Emeritus of Pediatrics), Book 20003rd edition Springer-Verlag Ber
描述Five years have passed since the second edition of With respect to the contents of the book, most chapters have been rewritten or extensively revised. A Inborn Metabolic Diseases; Diagnosis and Treatment was published. The third edition, now being presented, few chapters from the second edition have been deleted, since their contents are discussed in other has been thoroughly updated and revised. Again, the clinical presentation, the methods to arrive at the chapters of the present edition. A few new chapters diagnosis and the treatment of the patient have have been introduced, such as a general chapter on remained the focus of the book, that for a large part treatment, which gives a comprehensive list of present has been written by clinicians for clinicians. The scope treatments and new trends, a chapter on persistent of the readership has enlarged: from the original teams hyperinsulinemic hypoglycemia, a combined chapter of pediatricians, biochemists and dieticians it now also on disorders of ketogenesis and ketolysis, a chapter on disorders of proline and serine metabolism, a chapter encompasses neurologists, internists, geneticists and psychosocial workers. This reflects the fa
出版日期Book 20003rd edition
關(guān)鍵詞Insulin; Organelle; amino acid; inborn errors of metabolism; metabolic disease; metabolic diseases; metabo
版次3
doihttps://doi.org/10.1007/978-3-662-04285-4
isbn_ebook978-3-662-04285-4
copyrightSpringer-Verlag Berlin Heidelberg 2000
The information of publication is updating

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發(fā)表于 2025-3-21 23:59:29 | 只看該作者
Diagnostic Procedures: Function Tests and Postmortem Protocolor consumption of a nutrient for which a metabolic intolerance exists. As discussed in Chap. 1, if symptoms lead one to suspect the existence of an inborn metabolic disease, blood, urine, and cerebrospinal fluid should be investigated and/or stored in the correct way to perform the emergency protoco
板凳
發(fā)表于 2025-3-22 01:42:12 | 只看該作者
Emergency Treatmentsns and management mainly depend on the physiopathology involved. However, this chapter focuses on the main age-related clinical presentations in neonates and children for which emergency treatment can be life saving. In neonates, four main clinical presentations can be identified.
地板
發(fā)表于 2025-3-22 08:04:55 | 只看該作者
Psychosocial Care of the Child and Familye been identified. Increasingly, physicians have come to recognize the complexities of psychosocial care for children with inborn errors of metabolism. Although the special features of each condition dictate an individualized treatment approach, there are general issues of adaptation to the illness,
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Persistent Hyperinsulinemic Hypoglycemiaon of insulin is responsible for profound hypoglycemias, which require aggressive treatment to prevent severe and irreversible brain damage. A combination of glucose and glucagon is started as an emergency treatment as soon as a tentative diagnosis of PHHI is made. It is followed by treatment with d
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發(fā)表于 2025-3-23 07:41:37 | 只看該作者
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycleynthesis, defects of pyruvate metabolism and of the TCA cycle almost invariably affect the central nervous system. The severity and patterns of clinical phenotypes vary tremendously among affected patients and are not specific, with the range of manifestations extending from overwhelming neonatal la
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