Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation.
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Adolescent↗
Biomedical subjects
R Gitzelmann
Publications and source records attributed to R Gitzelmann.
Fluorescent spot screening test for galactosemia: increased sensitivity.
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Chemistry Techniques, Analytical↗
Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication.
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Carbohydrate Epimerases↗
[Newborn infant screening program in Switzerland].
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Female↗
Glycogenesis type I (glucose 6-phosphatase deficiency): ultrastructural alterations of hepatocytes in a tumor bearing liver.
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Adult↗
Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.
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Acidosis↗
[Phenylketonuria and hyperphenylalaninemia].
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Humans↗
Electron microscopic recognition of surface antigen by direct reaction and ferritin capture with guinea pig hybrid antibody.
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Animals↗
Localization of rabbit intestinal sucrase with ferritin-antibody conjugates.
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Animals↗
Inability of galactose to mobilize insulin in galactoknase-deficient individuals.
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Adult↗
Estimation of galactose-I-phosphate in erythrocytes: a rapid and simple enzymatic method.
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Alcohol Oxidoreductases↗
Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia.
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Carbon Isotopes↗
[Enzyme defects and nutrition].
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Biological Transport↗
[Carbohydrate metabolism anomalies; galactose metabolism].
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Carbohydrate Metabolism, Inborn Errors↗
Immunochemical study of isolated human and rabbit intestinal sucrase.
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Animals↗
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn.
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Animals↗
Galactitol and galactose-1-phosphate in the lens of a galactosemic infant.
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Alcohols↗
Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
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Adult↗