Results 221 to 230 of about 28,424 (265)

Inborn errors of metabolism in Singapore

Journal of Inherited Metabolic Disease, 1994
SummaryBetween 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, L. F. Chio, F. C. Loh, S. C. Wee, I. Ng, S. H. Teo, Y. P. Yong, D. Chan, W. C. Chow, P. S. Ho, K. W. Lim, A. Goh, A. Pratibha, P. Kumar, Y. S. Wong   +14 more
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INBORN ERROR OF HISTIDINE METABOLISM

Pediatrics, 1962
A 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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Treatment of Inborn Errors of Metabolism

Pediatrics International, 1980
AbstractThe 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, 1987
The 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 fructose metabolism

The American Journal of Clinical Nutrition, 1993
A 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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Inborn errors of metabolism

Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland, Kiess, Anna, Kirstein, Skadi, Beblo   +2 more
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The lung in inborn errors of immunity

Pediatric Pulmonology
AbstractThe lungs are integral to immune defense, and inborn errors of immunity (IEI) often manifest as lung disease. Lung complications of IEI can involve the airways, alveolar spaces, interstitium, vasculature, and pleura. Accurate identification of these lung disease patterns requires a thorough clinical history, physical examination, and high ...
Sonia Restrepo‐Gualteros, Gustavo Nino, Maria J. Gutierrez   +2 more
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Epilepsy in inborn errors of metabolism

2013
Epilepsies 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 Fructose Metabolism

Annual Review of Nutrition, 1994
METABOLISM OF FRUcrOSE .. . . . . . . . . . . . . . . . . . . . . . . . . . . . • . • . • . . . . . . . . . . 42 Enzymes of Fructost Metabolism .... . .... . ... . .. . ........ . . . . . . . . . . . . . . . . 42 Alternate Pathways of Fructose Metabolism ...... . . . . . . . . . . . . . . . . . . . . . . .. . .
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Inborn Errors of Metabolism

Pediatric Clinics of North America, 1967
W H, Crouch, C M, Evanhoe
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