pubmed-article:15986423 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:15986423 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
pubmed-article:15986423 | lifeskim:mentions | umls-concept:C0242422 | lld:lifeskim |
pubmed-article:15986423 | lifeskim:mentions | umls-concept:C0013421 | lld:lifeskim |
pubmed-article:15986423 | lifeskim:mentions | umls-concept:C0017083 | lld:lifeskim |
pubmed-article:15986423 | pubmed:issue | 10 | lld:pubmed |
pubmed-article:15986423 | pubmed:dateCreated | 2005-10-11 | lld:pubmed |
pubmed-article:15986423 | pubmed:abstractText | GM1 gangliosidosis is due to beta-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia. | lld:pubmed |
pubmed-article:15986423 | pubmed:language | eng | lld:pubmed |
pubmed-article:15986423 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15986423 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:15986423 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15986423 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:15986423 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:15986423 | pubmed:month | Oct | lld:pubmed |
pubmed-article:15986423 | pubmed:issn | 0885-3185 | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:CaillaudCathe... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:EduardPaschke... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:VidailhetMari... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:YoshidaKunihi... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:Billette de... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:GalanaudDamie... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:RozeEmmanuelE | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:RoubergueAnne... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:EckThomasT | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:LopezNathalie... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:Maurel-Ollivi... | lld:pubmed |
pubmed-article:15986423 | pubmed:author | pubmed-author:DoummarDianeD | lld:pubmed |
pubmed-article:15986423 | pubmed:copyrightInfo | Copyright (c) 2005 Movement Disorder Society. | lld:pubmed |
pubmed-article:15986423 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:15986423 | pubmed:volume | 20 | lld:pubmed |
pubmed-article:15986423 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:15986423 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:15986423 | pubmed:pagination | 1366-9 | lld:pubmed |
pubmed-article:15986423 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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pubmed-article:15986423 | pubmed:year | 2005 | lld:pubmed |
pubmed-article:15986423 | pubmed:articleTitle | Dystonia and parkinsonism in GM1 type 3 gangliosidosis. | lld:pubmed |
pubmed-article:15986423 | pubmed:affiliation | Department of Neurology, Saint-Antoine Hospital AP-HP Paris, France. emmanuel.roze@sat.aphp.fr | lld:pubmed |
pubmed-article:15986423 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:15986423 | pubmed:publicationType | Review | lld:pubmed |
pubmed-article:15986423 | pubmed:publicationType | Case Reports | lld:pubmed |
pubmed-article:15986423 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15986423 | lld:pubmed |