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Inborn Errors of Carbohydrate Metabolism
1998Many disorders of carbohydrate metabolism have an inherited, molecular basis,1 but do not necessarily present in the perinatal period. This chapter discusses disorders that involve monosaccharide metabolism, intermediary metabolism, and glycogen metabolism, and is modified from a prior detailed evaluation.1 Most disorders are clinically apparent by ...
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Inborn Errors of Carbohydrate Metabolism
1991Inborn errors of carbohydrate metabolism can be classified according to the underlying enzyme defect in the following groups: 1. Defects of glycogen degradation (which underlie the glycogen storage diseases) 2. Defects of galactose metabolism 3. Defects of fructose metabolism 4. Defects of pyruvate metabolism
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Genomic variants associated with inborn errors in carbohydrate metabolism in southwestern Colombia
Genetics and Clinical GenomicsIntroduction: Carbohydrate Inborn Errors of Metabolism (IEMs) result from disruption of the catabolic or anabolic pathways of different carbohydrates, fructose, galactose and glycogen being the most common and belong to a heterogeneous group of disorders that may be inherited or may occur as a result of spontaneous genetic variants.
Jaime David Viafara Belalcazar +2 more
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Inborn errors of complex carbohydrate metabolism
American Journal of Medical Genetics, 1987J. Spranger, John M. Opitz
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Inborn Errors of Carbohydrate Metabolism
2007Fayez K. Ghishan, Mona Zawaideh
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Inborn errors of carbohydrate metabolism
2014Rana F. Ammoury, Fayez K. Ghishan
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Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism
American Journal of Ophthalmology, 1975openaire +3 more sources
Correlated charge noise and relaxation errors in superconducting qubits
Nature, 2021Chris Wilen +2 more
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