| pubmed-article:20817516 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0021289 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0026591 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0011065 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0008633 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0268542 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0033053 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C1704456 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C1549464 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C1449575 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C1418193 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0205396 | lld:lifeskim |
| pubmed-article:20817516 | lifeskim:mentions | umls-concept:C0392760 | lld:lifeskim |
| pubmed-article:20817516 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:20817516 | pubmed:dateCreated | 2010-11-24 | lld:pubmed |
| pubmed-article:20817516 | pubmed:abstractText | We describe the outcome of two consecutive pregnancies with a clinical presentation of ornithine transcarbamylase (OTC) deficiency (OTCD) without a molecular diagnosis. A 119kb deletion on Xp11.4 including the OTC gene was detected in the mother. The same deletion was identified in the blood spots from deceased male newborns. In patients with a clinical and biochemical presentation of OTCD and negative OTC sequencing, whole genome or targeted chromosomal microarray analysis (CMA) with coverage of the OTC and neighboring genes should be performed as a reflex test. | lld:pubmed |
| pubmed-article:20817516 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20817516 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20817516 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20817516 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20817516 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20817516 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:20817516 | pubmed:issn | 1096-7206 | lld:pubmed |
| pubmed-article:20817516 | pubmed:author | pubmed-author:GrodyWayne... | lld:pubmed |
| pubmed-article:20817516 | pubmed:author | pubmed-author:CederbaumStep... | lld:pubmed |
| pubmed-article:20817516 | pubmed:author | pubmed-author:CrandallBarba... | lld:pubmed |
| pubmed-article:20817516 | pubmed:author | pubmed-author:Quintero-Rive... | lld:pubmed |
| pubmed-article:20817516 | pubmed:author | pubmed-author:DeignanJoshua... | lld:pubmed |
| pubmed-article:20817516 | pubmed:author | pubmed-author:PeredoJaneJ | lld:pubmed |
| pubmed-article:20817516 | pubmed:author | pubmed-author:SimsMaureenM | lld:pubmed |
| pubmed-article:20817516 | pubmed:copyrightInfo | Copyright © 2010 Elsevier Inc. All rights reserved. | lld:pubmed |
| pubmed-article:20817516 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20817516 | pubmed:volume | 101 | lld:pubmed |
| pubmed-article:20817516 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20817516 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20817516 | pubmed:pagination | 413-6 | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:meshHeading | pubmed-meshheading:20817516... | lld:pubmed |
| pubmed-article:20817516 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20817516 | pubmed:articleTitle | An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency. | lld:pubmed |
| pubmed-article:20817516 | pubmed:affiliation | Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. fquintero@mednet.ucla.edu | lld:pubmed |
| pubmed-article:20817516 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20817516 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:5009 | entrezgene:pubmed | pubmed-article:20817516 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:20817516 | lld:entrezgene |
