| pubmed-article:16621642 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16621642 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:16621642 | lifeskim:mentions | umls-concept:C0268151 | lld:lifeskim |
| pubmed-article:16621642 | lifeskim:mentions | umls-concept:C1855585 | lld:lifeskim |
| pubmed-article:16621642 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:16621642 | pubmed:dateCreated | 2006-10-2 | lld:pubmed |
| pubmed-article:16621642 | pubmed:abstractText | Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with severe phenotype. Moreover he has a normal galactose intake from the age of 3 years. This case is probably an example of the important role of yet unknown susceptibility and or modifier genes. | lld:pubmed |
| pubmed-article:16621642 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16621642 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16621642 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16621642 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16621642 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16621642 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16621642 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:16621642 | pubmed:issn | 1096-7192 | lld:pubmed |
| pubmed-article:16621642 | pubmed:author | pubmed-author:BakkerJaap... | lld:pubmed |
| pubmed-article:16621642 | pubmed:author | pubmed-author:SpaapenLeo... | lld:pubmed |
| pubmed-article:16621642 | pubmed:author | pubmed-author:van LoonLuc... | lld:pubmed |
| pubmed-article:16621642 | pubmed:author | pubmed-author:Rubio-Gozalbo... | lld:pubmed |
| pubmed-article:16621642 | pubmed:author | pubmed-author:PanisBiancaB | lld:pubmed |
| pubmed-article:16621642 | pubmed:author | pubmed-author:SelsJean-Pier... | lld:pubmed |
| pubmed-article:16621642 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16621642 | pubmed:volume | 89 | lld:pubmed |
| pubmed-article:16621642 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16621642 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16621642 | pubmed:pagination | 277-9 | lld:pubmed |
| pubmed-article:16621642 | pubmed:meshHeading | pubmed-meshheading:16621642... | lld:pubmed |
| pubmed-article:16621642 | pubmed:meshHeading | pubmed-meshheading:16621642... | lld:pubmed |
| pubmed-article:16621642 | pubmed:meshHeading | pubmed-meshheading:16621642... | lld:pubmed |
| pubmed-article:16621642 | pubmed:meshHeading | pubmed-meshheading:16621642... | lld:pubmed |
| pubmed-article:16621642 | pubmed:meshHeading | pubmed-meshheading:16621642... | lld:pubmed |
| pubmed-article:16621642 | pubmed:meshHeading | pubmed-meshheading:16621642... | lld:pubmed |
| pubmed-article:16621642 | pubmed:meshHeading | pubmed-meshheading:16621642... | lld:pubmed |
| pubmed-article:16621642 | pubmed:meshHeading | pubmed-meshheading:16621642... | lld:pubmed |
| pubmed-article:16621642 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16621642 | pubmed:articleTitle | Untreated classical galactosemia patient with mild phenotype. | lld:pubmed |
| pubmed-article:16621642 | pubmed:affiliation | Department of Pediatrics, University Hospital Maastricht, Maastricht, The Netherlands. | lld:pubmed |
| pubmed-article:16621642 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16621642 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:16621642 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16621642 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16621642 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16621642 | lld:pubmed |
