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Uridine-sensitized screening identifies genes and metabolic regulators of nucleotide synthesis
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Uridine Diphosphate Galactose 4-Epimerase Deficiency
Archives of Pediatrics & Adolescent Medicine, 1980In addition to the galactosemias associated with galactose-1-phosphate uridylyltransferase and galactokinase deficiency, uridine diphosphate (UDP) galactose 4-epimerase deficiency is a third disorder of galactose metabolism characterized by the inability to epimerize UDPgalactose and UDPglucose.
Y, Ichiba, N, Namba, H, Misumi
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Uridine diphosphate galactose 4-epimerase deficiency
European Journal of Pediatrics, 1981A case of uridine diphosphate galactose (UDP-Gal) 4-epimerase deficiency was discovered by mass screening of newborn infants. UDP-Gal 4-epimerase activity of red blood cells from the patient was found to be remarkably low, i.e., 7.5% of the level in normal controls at comparable ages.
K, Oyanagi +8 more
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Deficit of uridine diphosphate galactose in galactosaemia
Journal of Inherited Metabolic Disease, 1989SummaryThe levels of uridine diphosphate galactose (UDPGal) and uridine diphosphate glucose (UDPGlc) have been determined in liver autopsy samples, erythrocytes and cultured skin fibroblasts from galactosaemic patients and compared to non‐galactosaemic controls.
W G, Ng +3 more
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Archives of Biochemistry and Biophysics, 1975
Abstract Rat liver microsomes showed very active uridine diphosphate-galactose pyrophosphatase activity leading to the hydrolysis of uridine diphosphate-galactose into galactose1-phosphate and finally into galactose. The activity was observed in presence of buffers with wide ranges of pH.
S, Mookerjea, J W, Yung
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Abstract Rat liver microsomes showed very active uridine diphosphate-galactose pyrophosphatase activity leading to the hydrolysis of uridine diphosphate-galactose into galactose1-phosphate and finally into galactose. The activity was observed in presence of buffers with wide ranges of pH.
S, Mookerjea, J W, Yung
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Erythrocytic uridine diphosphate galactose in galactosaemia
Journal of Inherited Metabolic Disease, 1991SummaryAn earlier claim of a deficiency of uridine diphosphate galactose in erythrocytes of galactosaemia patients was not confirmed. Enzymic techniques similar to those of the earlier investigators were used to determine not only the concentration of uridine diphosphate galactose but also the ratio of this concentration to the sum of the uridine sugar
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Prenatal determination of uridine diphosphate galactose‐4‐epimerase activity
Prenatal Diagnosis, 1983AbstractA prenatal diagnosis has been performed in a pregnancy at risk for uridine diphosphate galactose‐4‐epimerase deficiency, an enzyme variation causing severe symptoms in the neonatal period similar to those of classical galactosaemia. The postnatal enzyme investigation, and uneventful development of the child, indicate that the prediction of an ...
M G, Gillett, J B, Holton, R, MacFaul
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Measurements of uridine diphosphate glucose and uridine diphosphate galactose — an appraisal
European Journal of Pediatrics, 1995The recent disproof of a major deficiency of uridine diphosphate galactose in galactosemia should not lead investigators to assume either that enzymatic methods are unreliable for uridine sugar assays or that a defect in galactosylation in galactosemia has been excluded.
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Reaction of uridine diphosphate galactose 4-epimerase with a suicide inactivator
Biochemistry, 1990UDPgalactose 4-epimerase from Escherichia coli is rapidly inactivated by the compounds uridine 5'-diphosphate chloroacetol (UDC) and uridine 5'-diphosphate bromoacetol (UDB). Both UDC and UDB inactivate the enzyme in neutral solution concomitant with the appearance of chromophores absorbing maximally at 325 and 328 nm, respectively. The reaction of UDC
G R, Flentke, P A, Frey
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Myelodysplasia and deficiency of uridine diphosphate–galactose 4-epimerase
The Journal of Pediatrics, 1995A 4-year-old girl known to have peripheral uridine diphosphate-galactose 4-epimerase deficiency was examined for bruising and thrombocytopenia. She had dysplastic peripheral blood and bone marrow changes, with a global platelet function defect. Uridine diphosphate-galactose-4-epimerase participates in a metabolic pathway that provides substrates for ...
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