Linked Life Data

19185318

Source:http://linkedlifedata.com/resource/pubmed/id/19185318

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2009-3-3
pubmed:abstractText
We report on a 27-year-old man with Fabry disease who had widespread white-matter lesions (WMLs) despite the absence of renal or cardiac manifestations. Genomic analysis revealed a novel mutation: a GAT deletion at nucleotide position 234-236 in exon 5 of the coding region. After 12 months of enzyme replacement therapy (ERT), most of the WMLs had disappeared. Cell counts and protein levels in the cerebrospinal fluid also decreased. These findings suggest that ERT may play a role in the recovery of WMLs.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1878-5883
pubmed:author
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
279
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
118-20
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Amelioration of white-matter lesions in a patient with Fabry disease.
pubmed:affiliation
Department of Neurology D4, Osaka University Graduate School of Medicine, Osaka, Japan. misaky@neurol.med.osaka-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports