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Article: Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations
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TitleIntra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations
 
AuthorsYeung, WL1 2
Lam, CW1
Ng, PC1
 
Issue Date2010
 
PublisherMac Keith Press. The Journal's web site is located at http://www.mackeith.co.uk/journal.html
 
CitationDevelopmental Medicine And Child Neurology, 2010, v. 52 n. 10, p. e243-e244 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.1469-8749.2010.03663.x
 
ISSN0012-1622
2012 Impact Factor: 2.675
2012 SCImago Journal Rankings: 1.101
 
DOIhttp://dx.doi.org/10.1111/j.1469-8749.2010.03663.x
 
ISI Accession Number IDWOS:000281641800004
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorYeung, WL
 
dc.contributor.authorLam, CW
 
dc.contributor.authorNg, PC
 
dc.date.accessioned2010-12-23T08:38:07Z
 
dc.date.available2010-12-23T08:38:07Z
 
dc.date.issued2010
 
dc.description.naturelink_to_OA_fulltext
 
dc.identifier.citationDevelopmental Medicine And Child Neurology, 2010, v. 52 n. 10, p. e243-e244 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.1469-8749.2010.03663.x
 
dc.identifier.doihttp://dx.doi.org/10.1111/j.1469-8749.2010.03663.x
 
dc.identifier.epagee244
 
dc.identifier.hkuros176797
 
dc.identifier.isiWOS:000281641800004
 
dc.identifier.issn0012-1622
2012 Impact Factor: 2.675
2012 SCImago Journal Rankings: 1.101
 
dc.identifier.issue10
 
dc.identifier.openurl
 
dc.identifier.pmid20370815
 
dc.identifier.scopuseid_2-s2.0-77956469323
 
dc.identifier.spagee243
 
dc.identifier.urihttp://hdl.handle.net/10722/129495
 
dc.identifier.volume52
 
dc.languageeng
 
dc.publisherMac Keith Press. The Journal's web site is located at http://www.mackeith.co.uk/journal.html
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofDevelopmental Medicine and Child Neurology
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAcetylcholinesterase - deficiency - genetics
 
dc.subject.meshAsian Continental Ancestry Group - genetics
 
dc.subject.meshCollagen - genetics
 
dc.subject.meshEphedrine - therapeutic use
 
dc.subject.meshMuscle Proteins - genetics
 
dc.titleIntra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations
 
dc.typeArticle
 
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Author Affiliations
  1. Prince of Wales Hospital Hong Kong
  2. Alice Ho Miu Ling Nethersole Hospital