| pubmed-article:16182582 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C0021289 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C0025517 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C0178795 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C1852374 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C0018995 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C0751435 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:16182582 | lifeskim:mentions | umls-concept:C1710548 | lld:lifeskim |
| pubmed-article:16182582 | pubmed:dateCreated | 2005-12-12 | lld:pubmed |
| pubmed-article:16182582 | pubmed:abstractText | A neonate presented with hyperphenylalaninemia (HPA), with a persistently elevated phenylalanine/tyrosine ratio. The HPA was responsive to tetrahydrobiopterin (BH4). His clinical course was dominated by liver failure, associated with perinatal hemochromatosis. He also developed renal tubulopathy. HPA has not previously been reported in association with any of these features. We investigated the etiology of his condition, and discuss the possibility that this represents a novel single-gene disorder. | lld:pubmed |
| pubmed-article:16182582 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16182582 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16182582 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16182582 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16182582 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16182582 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16182582 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16182582 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:16182582 | pubmed:issn | 1096-7192 | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:BlauNenadN | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:SengerChristo... | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:MattmanAndreA | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:VallanceHilar... | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:WatersPaula... | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:ScottPatrickP | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:SetchellKenne... | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:KhashuMineshM | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:RuparAnthonyA | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:LillquistYola... | lld:pubmed |
| pubmed-article:16182582 | pubmed:author | pubmed-author:DemosMichelle... | lld:pubmed |
| pubmed-article:16182582 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16182582 | pubmed:volume | 86 Suppl 1 | lld:pubmed |
| pubmed-article:16182582 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16182582 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16182582 | pubmed:pagination | S148-52 | lld:pubmed |
| pubmed-article:16182582 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:meshHeading | pubmed-meshheading:16182582... | lld:pubmed |
| pubmed-article:16182582 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:16182582 | pubmed:articleTitle | Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder? | lld:pubmed |
| pubmed-article:16182582 | pubmed:affiliation | Department of Pathology and Laboratory Medicine, University of British Columbia, Children's and Women's Health Centre of British Columbia, Vancouver, BC, Canada. pjwaters@cw.bc.ca | lld:pubmed |
| pubmed-article:16182582 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16182582 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:16182582 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
