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Inborn Errors of Carbohydrate Metabolism
, 1998 Many 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 ...
R. Schwartz
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Inborn errors of carbohydrate metabolism
, 2014 Rana F. Ammoury, Fayez K. Ghishan
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Metabolic Disorders: Inborn Errors of Carbohydrate Metabolism
DeckerMed Medicine, 2019The small molecule diseases include the inborn errors of carbohydrate, ammonia, amino acid, organic acid, and fatty acid metabolism. They are central to the cohort of biochemical genetic diseases that are often associated with catastrophic presentations and life-threatening illness during infancy and childhood.
Gerald T Berry, Sameer S Chopra
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Ocular manifestations of inborn errors of carbohydrate and lipid metabolism.
Bibliotheca ophthalmologica : supplementa ad ophthalmologica, 1975 F. W. Newell
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Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism
, 2018 J. Lawrence Merritt, Renata C. Gallagher
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Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism
Klinische Wochenschrift, 1979A rapid and comprehensive urinary screening programme is presented by which most of the "heteroglycanoses" can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.
A C, Sewell, J, Gehler, J, Spranger
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Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism
, 2012 Stephen Cederbaum, Gerard T. Berry
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Inborn errors of pyrimidine metabolism: clinical update and therapy
Journal of Inherited Metabolic Disease, 2014 Inborn errors involving enzymes essential for pyrimidine nucleotide metabolism have provided new insights into their fundamental physiological roles as vital constituents of nucleic acids as well as substrates of lipid and carbohydrate metabolism and in ...
S. Balasubramaniam +2 more
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Inborn errors of metabolism screening in neonates: current perspective with diagnosis and therapy.
Current pediatric reviews, 2022Inborn errors of metabolism (IEMs) are rare hereditary or acquired disorders resulting from an enzymatic deformity in biochemical and metabolic pathways influencing proteins, fats, carbohydrate metabolism, or hampered some organelle function. Even though
S. Mukherjee, S. Ray
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