| pubmed-article:3951704 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:3951704 | lifeskim:mentions | umls-concept:C0026848 | lld:lifeskim |
| pubmed-article:3951704 | lifeskim:mentions | umls-concept:C0268596 | lld:lifeskim |
| pubmed-article:3951704 | lifeskim:mentions | umls-concept:C1836537 | lld:lifeskim |
| pubmed-article:3951704 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:3951704 | pubmed:dateCreated | 1986-3-28 | lld:pubmed |
| pubmed-article:3951704 | pubmed:abstractText | A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings. | lld:pubmed |
| pubmed-article:3951704 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3951704 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3951704 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:3951704 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3951704 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3951704 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3951704 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3951704 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3951704 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3951704 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:3951704 | pubmed:issn | 0028-3878 | lld:pubmed |
| pubmed-article:3951704 | pubmed:author | pubmed-author:ScholteH RHR | lld:pubmed |
| pubmed-article:3951704 | pubmed:author | pubmed-author:SchutgensR... | lld:pubmed |
| pubmed-article:3951704 | pubmed:author | pubmed-author:BolhuisP APA | lld:pubmed |
| pubmed-article:3951704 | pubmed:author | pubmed-author:VederH AHA | lld:pubmed |
| pubmed-article:3951704 | pubmed:author | pubmed-author:de VisserMM | lld:pubmed |
| pubmed-article:3951704 | pubmed:author | pubmed-author:OeyP LPL | lld:pubmed |
| pubmed-article:3951704 | pubmed:author | pubmed-author:Luyt-HouwenI... | lld:pubmed |
| pubmed-article:3951704 | pubmed:author | pubmed-author:Vaandrager-Ve... | lld:pubmed |
| pubmed-article:3951704 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3951704 | pubmed:volume | 36 | lld:pubmed |
| pubmed-article:3951704 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3951704 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3951704 | pubmed:pagination | 367-72 | lld:pubmed |
| pubmed-article:3951704 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:meshHeading | pubmed-meshheading:3951704-... | lld:pubmed |
| pubmed-article:3951704 | pubmed:year | 1986 | lld:pubmed |
| pubmed-article:3951704 | pubmed:articleTitle | Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. | lld:pubmed |
| pubmed-article:3951704 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:3951704 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:3951704 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
