| pubmed-article:7548871 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7548871 | lifeskim:mentions | umls-concept:C0037047 | lld:lifeskim |
| pubmed-article:7548871 | lifeskim:mentions | umls-concept:C0206307 | lld:lifeskim |
| pubmed-article:7548871 | lifeskim:mentions | umls-concept:C0033727 | lld:lifeskim |
| pubmed-article:7548871 | lifeskim:mentions | umls-concept:C0037812 | lld:lifeskim |
| pubmed-article:7548871 | lifeskim:mentions | umls-concept:C0917874 | lld:lifeskim |
| pubmed-article:7548871 | lifeskim:mentions | umls-concept:C0040395 | lld:lifeskim |
| pubmed-article:7548871 | lifeskim:mentions | umls-concept:C0392752 | lld:lifeskim |
| pubmed-article:7548871 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:7548871 | pubmed:dateCreated | 1995-11-20 | lld:pubmed |
| pubmed-article:7548871 | pubmed:abstractText | We present the findings of magnetic resonance imaging (MRI) and localised 1H magnetic resonance spectroscopy (MRS) in two brothers with Canavan's disease, a rare autosomal recessive leukodystrophy. Urine specimens of one child were evaluated by MRS. All examinations were performed in the same whole body 1.5 T superconducting magnet. MRI revealed the typical pattern of leukodystrophy including a more severe demyelination in the older child. The younger brother showed additional high signal lesions in the globi pallidi on T2-weighted images. MRS of the brain had an elevated ratio of N-acetyl-aspartate (NAA)/phosphocreatin + creatin (Cr) while the ratio of Cholin/Cr was reduced. in urine spectroscopy the concentration of NAA was markedly increased. The ratio of NAA/creatin + creatinin was 880 +/- 10% mmol/mol (normal: 5-21 mmol/mol). Diagnosis of Canavan's disease was supported by gas chromatographic urine examination with an 80-100 fold elevation of NAA concentration. Hence, the diagnosis of Canavan's disease could be established by increased ratio of NAA/Cr and decreased ratio of Cho/Cr relation in brain spectroscopy and high NAA concentration in urine spectroscopy. | lld:pubmed |
| pubmed-article:7548871 | pubmed:language | ger | lld:pubmed |
| pubmed-article:7548871 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7548871 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:7548871 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7548871 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7548871 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7548871 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7548871 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7548871 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7548871 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:7548871 | pubmed:issn | 1438-9029 | lld:pubmed |
| pubmed-article:7548871 | pubmed:author | pubmed-author:KahnTT | lld:pubmed |
| pubmed-article:7548871 | pubmed:author | pubmed-author:MödderUU | lld:pubmed |
| pubmed-article:7548871 | pubmed:author | pubmed-author:GärtnerJJ | lld:pubmed |
| pubmed-article:7548871 | pubmed:author | pubmed-author:RassekMM | lld:pubmed |
| pubmed-article:7548871 | pubmed:author | pubmed-author:EngelbrechtVV | lld:pubmed |
| pubmed-article:7548871 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7548871 | pubmed:volume | 163 | lld:pubmed |
| pubmed-article:7548871 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7548871 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7548871 | pubmed:pagination | 238-44 | lld:pubmed |
| pubmed-article:7548871 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:meshHeading | pubmed-meshheading:7548871-... | lld:pubmed |
| pubmed-article:7548871 | pubmed:year | 1995 | lld:pubmed |
| pubmed-article:7548871 | pubmed:articleTitle | [Magnetic resonance tomography and localized proton spectroscopy in 2 siblings with Canavan's disease]. | lld:pubmed |
| pubmed-article:7548871 | pubmed:affiliation | Institut für Diagnostische Radiologie, Heinrich-Heine-Universität Düsseldorf. | lld:pubmed |
| pubmed-article:7548871 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7548871 | pubmed:publicationType | English Abstract | lld:pubmed |
| pubmed-article:7548871 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:7548871 | lld:pubmed |
