| pubmed-article:15112841 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15112841 | lifeskim:mentions | umls-concept:C0230463 | lld:lifeskim |
| pubmed-article:15112841 | lifeskim:mentions | umls-concept:C0162309 | lld:lifeskim |
| pubmed-article:15112841 | lifeskim:mentions | umls-concept:C1709694 | lld:lifeskim |
| pubmed-article:15112841 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:15112841 | lifeskim:mentions | umls-concept:C1533148 | lld:lifeskim |
| pubmed-article:15112841 | lifeskim:mentions | umls-concept:C0439825 | lld:lifeskim |
| pubmed-article:15112841 | lifeskim:mentions | umls-concept:C2700116 | lld:lifeskim |
| pubmed-article:15112841 | lifeskim:mentions | umls-concept:C1299586 | lld:lifeskim |
| pubmed-article:15112841 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:15112841 | pubmed:dateCreated | 2004-4-28 | lld:pubmed |
| pubmed-article:15112841 | pubmed:abstractText | X-linked adrenoleukodystrophy (X-ALD) is characterized by demyelination that is associated with a deficient beta-oxidation of very long chain fatty acids. We report the unusual case of a male adult with X-ALD who was diagnosed at the age of 26 by a brain MRI performed because his brother had been diagnosed with a rapidly deteriorating form of X-ALD. His sole symptom was hearing difficulties in the presence of a normal audiogram since childhood. He has remained stable for seven years. Central auditory testing in our patient revealed severe deficits in several auditory processes. These findings correlated with involvement of the auditory pathway at the level of the trapezoid body, and posterior corpus callosum in particular, on his brain MRI. This case highlights not only the need for thorough audiological investigation of the patient who complains of hearing difficulties in the presence of a normal audiogram, but also that audiological investigations could be of value in the phenotypic evaluation of cases with adrenoleukodystrophy. | lld:pubmed |
| pubmed-article:15112841 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15112841 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15112841 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15112841 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15112841 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:15112841 | pubmed:issn | 1050-0545 | lld:pubmed |
| pubmed-article:15112841 | pubmed:author | pubmed-author:JonesSteveS | lld:pubmed |
| pubmed-article:15112841 | pubmed:author | pubmed-author:RudgePeterP | lld:pubmed |
| pubmed-article:15112841 | pubmed:author | pubmed-author:StevensJohnJ | lld:pubmed |
| pubmed-article:15112841 | pubmed:author | pubmed-author:MusiekFrank... | lld:pubmed |
| pubmed-article:15112841 | pubmed:author | pubmed-author:BamiouDoris-E... | lld:pubmed |
| pubmed-article:15112841 | pubmed:author | pubmed-author:LuxonLinda... | lld:pubmed |
| pubmed-article:15112841 | pubmed:author | pubmed-author:DaviesRosalyn... | lld:pubmed |
| pubmed-article:15112841 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15112841 | pubmed:volume | 15 | lld:pubmed |
| pubmed-article:15112841 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15112841 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15112841 | pubmed:pagination | 152-60 | lld:pubmed |
| pubmed-article:15112841 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:meshHeading | pubmed-meshheading:15112841... | lld:pubmed |
| pubmed-article:15112841 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:15112841 | pubmed:articleTitle | An unusual case of X-linked adrenoleukodystrophy with auditory processing difficulties as the first and sole clinical manifestation. | lld:pubmed |
| pubmed-article:15112841 | pubmed:affiliation | Neuro-otology Department, National Hospital for Neurology and Neurosurgery, London, UK. Doris-Eva.Bamiou@uclh.org | lld:pubmed |
| pubmed-article:15112841 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15112841 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15112841 | lld:pubmed |
