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Prenatal determination of uridine diphosphate galactose-4-epimerase activity

Prenatal Diagnosis, 1983
AbstractA 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
exaly   +3 more sources

HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients

Clinica Chimica Acta, 1995
Abstract A high performance liquid chromatography (HPLC) method has been developed for the measurement of uridine diphosphate galactose (UDPGal) and uridine diphosphate glucose (UDPGlc) in erythrocytes and cultured skin fibroblasts of normal controls and galactosemia patients.
F R Kaufman, Y K Xu, Yan-Kang Xu
exaly   +3 more sources

Mutations in Escherichia coli that affect uridine diphosphate glucose pyrophosphorylase activity and galactose fermentation

Biochimica Et Biophysica Acta, 1963
Abstract The metabolism of galactose was studied in two galactose-non-fermenting mutants which were isolated from Escherichia coli strain K12 and classified genetically as Group E by Drs. J. and E. M. Lederberg . One of them, W4597, was found to have a single defect in UDPG pyrophosphorylase (UTP: α- d -glucose-1-phosphate uridylyltranserase, EC 2.
K Kurahashi   +2 more
exaly   +3 more sources

Differences in Uridine Diphosphate Galactose-4-Epimerase between Haemolysates of Newborns and of Adults

Nature, 1967
THIS communication presents an observation not yet reported concerning the effect of exogenous nicotinamide adenine dinucleotide (NAD) on the activity of uridine diphosphate galactose-4-epimerase. This enzyme (formerly called galactowaldenase) was first demonstrated in yeast extract by Leloir1.
W G Ng, Hodgman Joan E, Won G Ng
exaly   +3 more sources

Uridine Diphosphate Galactose 4-Epimerase Deficiency

Archives of Pediatrics & Adolescent Medicine, 1980
In 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
openaire   +2 more sources

Uridine diphosphate galactose 4-epimerase deficiency

European Journal of Pediatrics, 1981
A 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
openaire   +2 more sources

Erythrocytic uridine diphosphate galactose in galactosaemia

Journal of Inherited Metabolic Disease, 1991
SummaryAn 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
openaire   +2 more sources

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