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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
19-20
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pubmed:dateCreated |
2010-7-26
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pubmed:abstractText |
Three different types of galactosemia have been described, and the most common form occurs due to a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme activity.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1873-3492
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2010 Elsevier B.V. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:day |
9
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pubmed:volume |
411
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1506-10
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pubmed:meshHeading |
pubmed-meshheading:20547145-DNA Mutational Analysis,
pubmed-meshheading:20547145-Exons,
pubmed-meshheading:20547145-Galactosemias,
pubmed-meshheading:20547145-Genetic Variation,
pubmed-meshheading:20547145-Genome, Human,
pubmed-meshheading:20547145-Humans,
pubmed-meshheading:20547145-Infant,
pubmed-meshheading:20547145-Infant, Newborn,
pubmed-meshheading:20547145-Introns,
pubmed-meshheading:20547145-Korea,
pubmed-meshheading:20547145-UTP-Hexose-1-Phosphate Uridylyltransferase
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pubmed:year |
2010
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pubmed:articleTitle |
Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
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pubmed:affiliation |
Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, South Korea.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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