| pubmed-article:6298999 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C0026845 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C0410214 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C0007258 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C1302234 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C0016701 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C0205195 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C1548793 | lld:lifeskim |
| pubmed-article:6298999 | lifeskim:mentions | umls-concept:C1880177 | lld:lifeskim |
| pubmed-article:6298999 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:6298999 | pubmed:dateCreated | 1983-4-15 | lld:pubmed |
| pubmed-article:6298999 | pubmed:abstractText | Two newborn female siblings fell ill with apathy, failure of suckling and a generalized progressive muscular hypotonia. Death occured at the age of 7 weeks, obviously caused by impairment of respiratory musculature. Biochemical studies in one child revealed carnitine deficiency especially in skeletal muscle; hepatic encephalopathy was absent. Both children had a generalized hyperaminoaciduria, an unusual finding in primary carnitine deficiency. Besides fatty metamorphosis of the liver, bilateral hydroureters and tubular calcifications of both kidneys, morphological studies showed a generalized lipid storage myopathy which predominated in Type-I-fibres and was accentuated in the muscles of the neck. Enzymehistochemical electron microscopy in longterm frozen muscle demonstrated that cytochrome-c-oxidase activity was absent not only in myopathic but also in most of the morphological unchanged muscle fibres. Only some fibres and endothelial cells displayed normal activity of mitochondria. Biochemically no cytochrome aa3 (cytochrome-c-oxidase) could be found in skeletal muscle; cytochrome b was almost undetectable. --In newborns with fatal lipid storage myopathy and carnitine deficiency it seems necessary to look for additional defects in the respiratory chain. Enzyme histochemical electron microscopy is a sensitive method in identifying cytochrome-c-oxidase even after a 12 months period of storage. | lld:pubmed |
| pubmed-article:6298999 | pubmed:language | eng | lld:pubmed |
| pubmed-article:6298999 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6298999 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:6298999 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6298999 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6298999 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:6298999 | pubmed:issn | 0174-7398 | lld:pubmed |
| pubmed-article:6298999 | pubmed:author | pubmed-author:PongratzDD | lld:pubmed |
| pubmed-article:6298999 | pubmed:author | pubmed-author:HübnerGG | lld:pubmed |
| pubmed-article:6298999 | pubmed:author | pubmed-author:TrijbelsJ MJM | lld:pubmed |
| pubmed-article:6298999 | pubmed:author | pubmed-author:EndresWW | lld:pubmed |
| pubmed-article:6298999 | pubmed:author | pubmed-author:DeufelTT | lld:pubmed |
| pubmed-article:6298999 | pubmed:author | pubmed-author:Müller-Höcker... | lld:pubmed |
| pubmed-article:6298999 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:6298999 | pubmed:volume | 399 | lld:pubmed |
| pubmed-article:6298999 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:6298999 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:6298999 | pubmed:pagination | 11-23 | lld:pubmed |
| pubmed-article:6298999 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:meshHeading | pubmed-meshheading:6298999-... | lld:pubmed |
| pubmed-article:6298999 | pubmed:year | 1983 | lld:pubmed |
| pubmed-article:6298999 | pubmed:articleTitle | Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle. | lld:pubmed |
| pubmed-article:6298999 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:6298999 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:6298999 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:6298999 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:6298999 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:6298999 | lld:pubmed |
