| pubmed-article:16488171 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16488171 | lifeskim:mentions | umls-concept:C0027617 | lld:lifeskim |
| pubmed-article:16488171 | lifeskim:mentions | umls-concept:C0342784 | lld:lifeskim |
| pubmed-article:16488171 | lifeskim:mentions | umls-concept:C0011900 | lld:lifeskim |
| pubmed-article:16488171 | lifeskim:mentions | umls-concept:C0750484 | lld:lifeskim |
| pubmed-article:16488171 | lifeskim:mentions | umls-concept:C0796357 | lld:lifeskim |
| pubmed-article:16488171 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:16488171 | pubmed:dateCreated | 2006-5-16 | lld:pubmed |
| pubmed-article:16488171 | pubmed:abstractText | We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria (prevalence rate: 1:31,500). We identified seven known and two new mutations in our patients (2/6 homozygotes; 4/6 compound heterozygotes). Blood samples taken at age 48-72 h were diagnostic whereas repeat samples at an older age were normal in 4/6 babies. Urine analysis was normal in 5/5. We conclude that the timing of blood sampling for newborn screening is important and that it is important to perform mutation analysis to avoid false-negative diagnoses of VLCADD in asymptomatic newborn babies. In view of the emerging genotype-phenotype correlation in this disorder, the information derived from mutational analysis can be helpful in designing the appropriate follow-up and therapeutic regime for these patients. | lld:pubmed |
| pubmed-article:16488171 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16488171 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16488171 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16488171 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16488171 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16488171 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16488171 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16488171 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:16488171 | pubmed:issn | 1096-7192 | lld:pubmed |
| pubmed-article:16488171 | pubmed:author | pubmed-author:PetersHH | lld:pubmed |
| pubmed-article:16488171 | pubmed:author | pubmed-author:GregersenNN | lld:pubmed |
| pubmed-article:16488171 | pubmed:author | pubmed-author:IbrahimMM | lld:pubmed |
| pubmed-article:16488171 | pubmed:author | pubmed-author:AndresenB SBS | lld:pubmed |
| pubmed-article:16488171 | pubmed:author | pubmed-author:BonehAA | lld:pubmed |
| pubmed-article:16488171 | pubmed:author | pubmed-author:PittJ JJJ | lld:pubmed |
| pubmed-article:16488171 | pubmed:author | pubmed-author:TzanakosNN | lld:pubmed |
| pubmed-article:16488171 | pubmed:author | pubmed-author:Yaplito-LeeJJ | lld:pubmed |
| pubmed-article:16488171 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16488171 | pubmed:volume | 88 | lld:pubmed |
| pubmed-article:16488171 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16488171 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16488171 | pubmed:pagination | 166-70 | lld:pubmed |
| pubmed-article:16488171 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
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| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:meshHeading | pubmed-meshheading:16488171... | lld:pubmed |
| pubmed-article:16488171 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16488171 | pubmed:articleTitle | VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. | lld:pubmed |
| pubmed-article:16488171 | pubmed:affiliation | Metabolic Service and Newborn Screening Laboratory, Genetic Health Services Victoria, Melbourne, Australia. avihu.boneh@ghsv.org.au | lld:pubmed |
| pubmed-article:16488171 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16488171 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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