10714667

Source:http://linkedlifedata.com/resource/pubmed/id/10714667

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0011164, umls-concept:C0027066, umls-concept:C0086120, umls-concept:C0268251
pubmed:issue	3
pubmed:dateCreated	2000-3-23
pubmed:abstractText	To describe a case with a new genetic variant of type 3 Gaucher disease presenting with stimulus-sensitive and action myoclonus in the presence of selective dentate abnormalities.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/5 M01 RR00071, http://linkedlifedata.com/resource/pubmed/grant/5 P30 HD28822
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0372436
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/beta-Glucosidase
pubmed:status	MEDLINE
pubmed:month	Mar
pubmed:issn	0003-9942
pubmed:author	pubmed-author:DesnickR JRJ, pubmed-author:DicksonD WDW, pubmed-author:GoldbergR FRF, pubmed-author:GoldmanJ EJE, pubmed-author:GraceM EME, pubmed-author:HSUF JFJ, pubmed-author:RapinII, pubmed-author:VergheseJJ
pubmed:issnType	Print
pubmed:volume	57
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	389-95
pubmed:dateRevised	2007-11-14
pubmed:meshHeading	pubmed-meshheading:10714667-Cerebellar Nuclei, pubmed-meshheading:10714667-Child, pubmed-meshheading:10714667-Electroencephalography, pubmed-meshheading:10714667-Female, pubmed-meshheading:10714667-Gaucher Disease, pubmed-meshheading:10714667-Humans, pubmed-meshheading:10714667-Myoclonus, pubmed-meshheading:10714667-Point Mutation, pubmed-meshheading:10714667-beta-Glucosidase
pubmed:year	2000
pubmed:articleTitle	Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease.
pubmed:affiliation	Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't