| pubmed-article:10665502 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10665502 | lifeskim:mentions | umls-concept:C0042875 | lld:lifeskim |
| pubmed-article:10665502 | lifeskim:mentions | umls-concept:C0795956 | lld:lifeskim |
| pubmed-article:10665502 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
| pubmed-article:10665502 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:10665502 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:10665502 | pubmed:dateCreated | 2000-2-17 | lld:pubmed |
| pubmed-article:10665502 | pubmed:abstractText | We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sjögren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin E deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco-Sjögren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E. | lld:pubmed |
| pubmed-article:10665502 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10665502 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10665502 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10665502 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10665502 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10665502 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10665502 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:10665502 | pubmed:issn | 0364-5134 | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:QuattroneAA | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:GambardellaAA | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:ValentinoPP | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:AgugliaUU | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:BonoFF | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:SpadaforaPP | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:PasquinelliGG | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:CavalcantiFF | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:CrescibeneLL | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:BagalàAA | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:ZappiaMM | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:OliveriR LRL | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:AnnesiFF | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:AnnesiGG | lld:pubmed |
| pubmed-article:10665502 | pubmed:author | pubmed-author:PasquaA AAA | lld:pubmed |
| pubmed-article:10665502 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10665502 | pubmed:volume | 47 | lld:pubmed |
| pubmed-article:10665502 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10665502 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10665502 | pubmed:pagination | 260-4 | lld:pubmed |
| pubmed-article:10665502 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:meshHeading | pubmed-meshheading:10665502... | lld:pubmed |
| pubmed-article:10665502 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10665502 | pubmed:articleTitle | Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. | lld:pubmed |
| pubmed-article:10665502 | pubmed:affiliation | Institute of Neurology, School of Medicine, University of Catanzaro, Italy. | lld:pubmed |
| pubmed-article:10665502 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10665502 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:10665502 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:51128 | entrezgene:pubmed | pubmed-article:10665502 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10665502 | lld:pubmed |
