Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes (Professor of Pediatrics),Jean-Mari Book 19901st edition Springer-Verlag Ber

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Disorders of Pyruvate Metabolism, the Citric Acid Cycle, and the Respiratory Chain. The genetic defect commonly affects the nuclear genome, and the inherited pattern is autosomal or X-linked recessive. These patterns characterize pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency, lactate dehydrogenase deficiency, fumarase deficiency, and several of the defects in

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Phenylketonuria and Hyperphenylalaninemiahenylalanine to tyrosine. The defect causes accumulation of phenylalanine and its metabolites, e. g., phenylpyruvate, leading to phenylketonuria and phenylacetate responsible for a “musty” odor in untreated patients. Different mutations in the gene coding for phenylalanine hydroxylase correlate with

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Book 19901st editionthogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline.

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ses and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline.978-3-662-02613-7

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staken regulatory policies, the clash between the early hype and the pioneering realities of the mobile Internet. But these are generalities that barely scratch the surface. The devil is in the details. And it is these details that .Competition for the Mobile Internet. addresses. .978-1-4613-4878-8978-1-4419-9290-1

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staken regulatory policies, the clash between the early hype and the pioneering realities of the mobile Internet. But these are generalities that barely scratch the surface. The devil is in the details. And it is these details that .Competition for the Mobile Internet. addresses. .978-1-4613-4878-8978-1-4419-9290-1

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J.-M. Saudubray,H. Ogier communicate the offer for example by showing the credit comma. In fact, they do not even need to (lo so. We also obtain an open bid setting when a hank, realizing that its credit offer will not be accepted, makes a second offer. Of course in order to obtain the perfect analogy of an open bid auctio

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communicate the offer for example by showing the credit comma. In fact, they do not even need to (lo so. We also obtain an open bid setting when a hank, realizing that its credit offer will not be accepted, makes a second offer. Of course in order to obtain the perfect analogy of an open bid auctio

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N. Kono,S. Taruiour government had swept into power in 1945. The War-time government had already assumed full control of the industry in 1942, and the Reid Committee, reporting in 1945, drew attention to serious weaknesses resulting from decades of poor management and underinvestment. The Committee called for drast

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R. Bergerour government had swept into power in 1945. The War-time government had already assumed full control of the industry in 1942, and the Reid Committee, reporting in 1945, drew attention to serious weaknesses resulting from decades of poor management and underinvestment. The Committee called for drast