Results 171 to 180 of about 22,929 (214)
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Inborn errors of fructose metabolism
The American Journal of Clinical Nutrition, 1993A review is presented of genetic defects affecting fructose metabolism in humans. Presently, six conditions have been recognized: fructose malabsorption, fructokinase deficiency, aldolase A and aldolase B deficiency, fructose-1,6-diphosphatase deficiency and D-glyceric aciduria.
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Thiamine‐responsive inborn errors of metabolism
Journal of Inherited Metabolic Disease, 1985AbstractThree different inherited disorders are known in which thiamine may exert a beneficial effect: maple syrup urine disease (MSUD), lactic acidaemia and the syndrome of megaloblastic anaemia with sensorineural deafness and diabetes mellitus. The amounts of thiamine which were used for long‐term treatment varied from 20 to 2400 mg day−1. Additional
M, Duran, S K, Wadman
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Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland, Kiess +2 more
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Wieland, Kiess +2 more
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Inborn errors of bile acid metabolism
Journal of Inherited Metabolic Disease, 1991SummaryCholesterol is converted to cholic acid and chenodeoxycholic acid by a series of reactions involving modifications to the steroid nucleus and oxidation of the side chain. These reactions can be affected by a number of inborn errors of metabolism. When this happens unusual bile acids or bile alcohols are synthesized; these can be identified using
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Journal of the American Dietetic Association, 1966
V H, Auerbach, A M, Digeorge
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V H, Auerbach, A M, Digeorge
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Metabolomics in cancer research and emerging applications in clinical oncology
Ca-A Cancer Journal for Clinicians, 2021Daniel R Schmidt +2 more
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