Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm Jean-Marie Saudubray,Matthias R. Baumgartner,John Book 20166th edition Springer-Verlag Gmb

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nd Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles –?Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.?.978-3-662-49771-5

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Clinical Approach to Inborn Errors of Metabolism in Pediatricsexpensive or unreliable and, as a consequence, a simple method of clinical screening is mandatory before initiating sophisticated biochemical investigations. This Chapter gives an overview of clinical clues to the diagnosis of IEM in pediatrics.

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Disorders of Fructose Metabolismdeficiency is also usually considered an inborn error of fructose metabolism although, strictly speaking, it is a defect of gluconeogenesis. The disorder is manifested by the appearance of hypoglycaemia and lactic acidosis (neonatally, or later during fasting or induced by fructose) and may be life-threatening

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