Uridine diphosphate galactose 4-epimerase deficiency
Copyright policy )Uridine diphosphate galactose 4-epimerase deficiency
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. The parents showed intermediate values between those of the patient and controls. The enzyme activity in a specimen of liver tissue obtained from the patient by needle biopsy revealed a normal value. Subsequently, two other families with the condition were found by mass screening and these individuals were found to be heterozygotes.
Male, Erythrocytes, Infant, Pedigree, UDPglucose 4-Epimerase, Japan, Liver, Humans, Mass Screening, Carbohydrate Epimerases, Carbohydrate Metabolism, Inborn Errors
Male, Erythrocytes, Infant, Pedigree, UDPglucose 4-Epimerase, Japan, Liver, Humans, Mass Screening, Carbohydrate Epimerases, Carbohydrate Metabolism, Inborn Errors
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).4 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!