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INBORN ERROR OF HISTIDINE METABOLISM
Pediatrics, 1962A 3-year-old girl with fair hair and blue eyes came under observation because of speech retardation. The patient was given a phenylalanine-free diet, since persistently positive urine tests with ferric chloride and reagent strips (Phenistix) were strongly suggestive of phenylketonuria.
H, GHADIMI, M W, PARTINGTON, A, HUNTER
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Inborn errors of metabolism in Singapore
Journal of Inherited Metabolic Disease, 1994SummaryBetween 1992 and 1994 the Paediatric Metabolic Centre screened 403 patients for inherited metabolic disease. Seventeen patients were diagnosed, including 7 with organic acidurias, 5 with mucopolysaccharidoses, 2 with amino acid disorders, 2 with carbohydrate disorders and 1 with hyperlipidaemia.
I. K. Tan +14 more
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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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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 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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Inborn errors of metabolism and pregnancy
American Journal of Obstetrics & Gynecology MFMAs the diagnosis and treatment of patients with inborn errors of metabolism has improved dramatically over the years, more people with these conditions are surviving into child-bearing years. Given the changes in metabolism throughout pregnancy, this time presents a unique challenge in their care. Overall metabolic shifts in pregnancy go from anabolism
Kristen, Murphey +2 more
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Extended Risk of Mortality in Children with Inborn Errors of Metabolism: A Longitudinal Cohort Study
Journal of Pediatrics, 2023Nathalie Auger +2 more
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