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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3-4
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pubmed:dateCreated |
2010-3-9
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pubmed:abstractText |
Classic galactosemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase. The disorder can be detected by newborn screening and in Hungary the national screening program was launched in 1976 with two screening centers. The aim of this study was the molecular characterization of the genotypes and analysis of genotype-phenotype correlation among patients with classic or variant galactosemia.
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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 |
Feb
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|
pubmed:issn |
1613-7671
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
122
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
95-102
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pubmed:meshHeading |
pubmed-meshheading:20213376-Female,
pubmed-meshheading:20213376-Galactosemias,
pubmed-meshheading:20213376-Genetic Predisposition to Disease,
pubmed-meshheading:20213376-Genetic Testing,
pubmed-meshheading:20213376-Humans,
pubmed-meshheading:20213376-Hungary,
pubmed-meshheading:20213376-Incidence,
pubmed-meshheading:20213376-Infant, Newborn,
pubmed-meshheading:20213376-Male,
pubmed-meshheading:20213376-Polymorphism, Single Nucleotide,
pubmed-meshheading:20213376-Risk Assessment,
pubmed-meshheading:20213376-Risk Factors,
pubmed-meshheading:20213376-UTP-Hexose-1-Phosphate Uridylyltransferase
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pubmed:year |
2010
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pubmed:articleTitle |
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
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pubmed:affiliation |
2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary. ilona.milankovics@hotmail.com
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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