| pubmed-article:17661081 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17661081 | lifeskim:mentions | umls-concept:C1858460 | lld:lifeskim |
| pubmed-article:17661081 | lifeskim:mentions | umls-concept:C0268595 | lld:lifeskim |
| pubmed-article:17661081 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:17661081 | lifeskim:mentions | umls-concept:C0868928 | lld:lifeskim |
| pubmed-article:17661081 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:17661081 | pubmed:dateCreated | 2008-3-19 | lld:pubmed |
| pubmed-article:17661081 | pubmed:abstractText | We report, for the first time, the outcome of three children born to two women with untreated glutaric aciduria type I (GA I). Isolated hypocarnitinemia in neonatal screening in one baby allowed the identification of the disease in his mother, who was undiagnosed so far and had had a previous daughter. The other baby was born to an already diagnosed mother who was not treated; newborn screening in the child reflected the metabolic state of the mother. Biochemical abnormalities returned to normal within one week. At the age of 4 months, neuroimaging showed Sylvian enlargement in both infants and bilateral temporal arachnoid cysts in one. Physical and neurological developments were normal for the three patients at ages 2 and 5 years. We conclude that long-term follow up will determine the true impact of GA I in such children. | lld:pubmed |
| pubmed-article:17661081 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17661081 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17661081 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:17661081 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17661081 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17661081 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17661081 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17661081 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17661081 | pubmed:month | May | lld:pubmed |
| pubmed-article:17661081 | pubmed:issn | 0340-6199 | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:SoaresIsabelI | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:VilarinhoLaur... | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:MarcãoAnaA | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:BarbotClaraC | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:AlmeidaMargar... | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:MartinsEsmera... | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:DiogoLuísaL | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:GarciaPaulaP | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:RochaHugoH | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:GasparEuricoE | lld:pubmed |
| pubmed-article:17661081 | pubmed:author | pubmed-author:VazCatarinaC | lld:pubmed |
| pubmed-article:17661081 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17661081 | pubmed:volume | 167 | lld:pubmed |
| pubmed-article:17661081 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17661081 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17661081 | pubmed:pagination | 569-73 | lld:pubmed |
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| pubmed-article:17661081 | pubmed:meshHeading | pubmed-meshheading:17661081... | lld:pubmed |
| pubmed-article:17661081 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:17661081 | pubmed:articleTitle | Outcome of three cases of untreated maternal glutaric aciduria type I. | lld:pubmed |
| pubmed-article:17661081 | pubmed:affiliation | Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000 Coimbra, Portugal. | lld:pubmed |
| pubmed-article:17661081 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17661081 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:2639 | entrezgene:pubmed | pubmed-article:17661081 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:17661081 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:17661081 | lld:pubmed |
