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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1981-7-9
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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
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Feb
|
pubmed:issn |
0340-6199
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
135
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
303-4
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7227386-Carbohydrate Epimerases,
pubmed-meshheading:7227386-Carbohydrate Metabolism, Inborn Errors,
pubmed-meshheading:7227386-Erythrocytes,
pubmed-meshheading:7227386-Humans,
pubmed-meshheading:7227386-Infant,
pubmed-meshheading:7227386-Japan,
pubmed-meshheading:7227386-Liver,
pubmed-meshheading:7227386-Male,
pubmed-meshheading:7227386-Mass Screening,
pubmed-meshheading:7227386-Pedigree,
pubmed-meshheading:7227386-UDPglucose 4-Epimerase
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pubmed:year |
1981
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pubmed:articleTitle |
Uridine diphosphate galactose 4-epimerase deficiency.
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pubmed:publicationType |
Journal Article,
Case Reports
|