| pubmed-article:10899453 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C0031117 | lld:lifeskim |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C0023264 | lld:lifeskim |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C0268237 | lld:lifeskim |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C1420527 | lld:lifeskim |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:10899453 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:10899453 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:10899453 | pubmed:dateCreated | 2000-9-15 | lld:pubmed |
| pubmed-article:10899453 | pubmed:abstractText | We report on a 5-year-old boy with clinical and neuroradiological evidence of Leigh syndrome and peripheral neuropathy. Skeletal muscle biopsy showed decreased cytochrome c oxidase stain. Ultrastructurally, the nerve biopsy showed a defect of myelination. Biochemical analyses of muscle homogenate showed cytochrome c oxidase deficiency (15% residual activity). SURF1 gene analysis identified a novel homozygous nonsense mutation which predicts a truncated surf1 protein. | lld:pubmed |
| pubmed-article:10899453 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10899453 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10899453 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10899453 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10899453 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10899453 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10899453 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10899453 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10899453 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10899453 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:10899453 | pubmed:issn | 0960-8966 | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:SantoroLL | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:PatronoCC | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:PalmeriSS | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:BertiniEE | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:CarrozzoRR | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:PiemonteFF | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:MalandriniAA | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:SantorelliF... | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:VillanovaMM | lld:pubmed |
| pubmed-article:10899453 | pubmed:author | pubmed-author:TessaAA | lld:pubmed |
| pubmed-article:10899453 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10899453 | pubmed:volume | 10 | lld:pubmed |
| pubmed-article:10899453 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10899453 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10899453 | pubmed:pagination | 450-3 | lld:pubmed |
| pubmed-article:10899453 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:meshHeading | pubmed-meshheading:10899453... | lld:pubmed |
| pubmed-article:10899453 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10899453 | pubmed:articleTitle | A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. | lld:pubmed |
| pubmed-article:10899453 | pubmed:affiliation | Department of Neurophysiopathology, Federico II University, Napoli, Italy. | lld:pubmed |
| pubmed-article:10899453 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10899453 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:10899453 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
