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

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Disorders of Galactose Metabolismssical galactosemia. The more frequent partial deficiency is benign. Review articles are recommended for detailed information [1–3]. Fanconi-Bickel syndrome (Chap. 6) and portosystemic venous shunting are congenital errors of galactose transport leading to hypergalactosemia.

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Disorders of Fructose Metabolismctly speaking, it is not a defect of the specialized fructose pathway. It is manifested by the appearance of hypoglycemia and lactic acidosis (neonatally or during fasting) and may also be life-threatening.

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The Glycogen-Storage Diseasesans that are most seriously involved. GSDs are denoted either by the deficient enzyme or by a type number that reflects the historical sequence of elucidation. The latter presentation is used in this chapter. The main characteristics of each GSD type are summarized in Table 6.1.

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re accurate computation of the Miller factor is derived. To achieve both computational efficiency and accuracy, a variety of mechanisms for pruning the search space are detailed, including: .-Spatial pruning - reducing aggressors to those in physical proximity, .-Electrical pruning - reducing aggressors by el978-1-4757-7949-3978-1-4020-8092-0

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