Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1981-7-9
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
135
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
303-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Uridine diphosphate galactose 4-epimerase deficiency.
pubmed:publicationType
Journal Article, Case Reports