Linked Life Data

1831492

Source:http://linkedlifedata.com/resource/pubmed/id/1831492

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1991-9-26
pubmed:abstractText
Galactosemia, an inborn error of metabolism characterized by the inability to transform galactose-1-phosphate into glucose-1-phosphate, occurs in 1:50,000 live births. If not diagnosed and treated within the newborn period, it can lead to severe morbidity and mortality within a few weeks of life. All children in Florida are screened for this disorder by a fluorescence assay system to measure galactose-1-phosphate uridyltransferase (GALT) activity in a dried blood spot. Genetic factors and external forces can affect the activity of the GALT enzyme and lead to confusing results. Parents of infants heterozygous for galactosemia should be offered the opportunity for carrier detection. If both are carriers, genetic counseling should be provided.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0015-4148
pubmed:author
pubmed:issnType
Print
pubmed:volume
78
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
369-71
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Florida newborn screening for galactosemia.
pubmed:affiliation
University of South Florida, College of Medicine, Tampa.
pubmed:publicationType
Journal Article