Results 131 to 140 of about 4,041 (175)

Deficit of uridine diphosphate galactose in galactosaemia

open access: yesJournal of Inherited Metabolic Disease, 1989
SummaryThe 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.
Y K Xu, F R Kaufman, G N Donnell
exaly   +4 more sources

Measurements of uridine diphosphate glucose and uridine diphosphate galactose — an appraisal

European Journal of Pediatrics, 1995
The 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.
Henry N Kirkman, Kirkman Henry N
exaly   +3 more sources

Uridine Diphosphate Galactose 4-Epimerase Deficiency

open access: yesArchives 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   +3 more sources

Studies on uridine diphosphate-galactose pyrophosphatase and uridine diphosphate-galactose: Glycoprotein galactosyltransferase activities in microsomal membranes

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.
Sailen Mookerjea
exaly   +3 more sources

Erythrocytic uridine diphosphate galactose in galactosaemia

open access: yesJournal 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
H. N. Kirkman
openaire   +3 more sources

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 ...
J B Holton
exaly   +3 more sources

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