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Diagnosis of Inborn Errors of Metabolism
Archives of Medical Research, 2000Systematic detection of inborn errors of metabolism (IEM) has usually encountered difficulties in developing countries. We present our experience in a high-risk population in Mexico between 1973 and 1998 with particular reference to the last 10 years, during which time infrastructure and support were considerably improved.
A, Velázquez +6 more
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HYPOTHYROIDISM AS AN INBORN ERROR OF METABOLISM
The Journal of Clinical Endocrinology & Metabolism, 1954CRETINISM in the United Kingdom is commonly sporadic and athyroidic; iodine intake is adequate but functional thyroid tissue is absent. In areas of endemic goiter, cretins are born with goiters; functional thyroid tissue is available initially but there is an insufficient supply of iodine to allow the thyroid gland to keep the fetus or infant in ...
J H, HUTCHISON, E M, McGIRR
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Inborn Errors of Fructose Metabolism
Annual Review of Nutrition, 1994METABOLISM OF FRUcrOSE .. . . . . . . . . . . . . . . . . . . . . . . . . . . . • . • . • . . . . . . . . . . 42 Enzymes of Fructost Metabolism .... . .... . ... . .. . ........ . . . . . . . . . . . . . . . . 42 Alternate Pathways of Fructose Metabolism ...... . . . . . . . . . . . . . . . . . . . . . . .. . .
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Epilepsy in inborn errors of metabolism
2013Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances.
Nadia, Bahi-Buisson, Olivier, Dulac
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Inborn Errors of Pterin Metabolism
Annual Review of Nutrition, 1988HY PERPHENY LALANINEMIA DUE TO TETRAHYDROBIOPTERIN DEFICIENCy 188 GTP Cyclohydrolase I Deficiency 188 6-Pyruvoyl Tetrahydropterin Synthase Deficiency 189 Dihydropteridine Reductase Deficiency 191 Other Forms ...
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Inborn Errors of Biotin Metabolism
Archives of Dermatology, 1987The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase.
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Treatment of Inborn Errors of Metabolism
Pediatrics International, 1980AbstractThe results of a collaborative study of children treated on newborn mass‐screening program in Japan are described. Forty‐three cases of PKU, in which the dietary treatment was started between 9 to 35 days of life, were followed up, their ages ranging from 6 months to .6 years. DQ or IQ was found to be within normal range in all cases.
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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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Parkinsonism and inborn errors of metabolism
Journal of Inherited Metabolic Disease, 2014AbstractParkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic‐rigid syndrome” (HRS) is more accurate in children.
Garcia-Cazorla A, Duarte ST
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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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