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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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John Fernandes (Professor Emeritus of Pediatrics),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
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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.
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Springer-Verlag Berlin Heidelberg 2000
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Persistent Hyperinsulinemic Hypoglycemiasponds to a functional abnormality of insulin secretion in the whole pancreas and involves several genes with different transmissions. The therapeutic outcome differs for both histological entities, as does genetic counseling.
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Disorders of Tyrosine Metabolisme into DOPA-quinone; the deficiency of tyrosine hydroxylase, the first enzyme in the synthesis of dopamine from tyrosine; and the deficiency of aromatic .-amino acid decarboxylase, which also affects tryptophan metabolism. The latter two disorders are covered in Chap. 26.
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point for each chapter.Reference to diagnostic options.IncluFive 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, no
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