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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

TitleIntra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations
Authors
Yeung, WLLam, CWNg, PC
Issue Date2010
PublisherMac Keith Press. The Journal's web site is located at http://www.mackeith.co.uk/journal.html
Citation
Developmental 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
Persistent Identifierhttp://hdl.handle.net/10722/129495
ISSN
0012-1622
2023 Impact Factor: 3.8
2023 SCImago Journal Rankings: 1.251
ISI Accession Number ID
WOS:000281641800004
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorYeung, WLen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorNg, PCen_HK
dc.date.accessioned2010-12-23T08:38:07Z-
dc.date.available2010-12-23T08:38:07Z-
dc.date.issued2010en_HK
dc.identifier.citationDevelopmental Medicine And Child Neurology, 2010, v. 52 n. 10, p. e243-e244en_HK
dc.identifier.issn0012-1622en_HK
dc.identifier.urihttp://hdl.handle.net/10722/129495-
dc.languageengen_US
dc.publisherMac Keith Press. The Journal's web site is located at http://www.mackeith.co.uk/journal.htmlen_HK
dc.relation.ispartofDevelopmental Medicine and Child Neurologyen_HK
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 mutationsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0012-1622&volume=52&issue=10&spage=e243&epage=e244&date=2010&atitle=Intra-familial+variation+in+clinical+manifestations+and+response+to+ephedrine+in+siblings+with+congenital+myasthenic+syndrome+caused+by+novel+COLQ+mutations-
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1111/j.1469-8749.2010.03663.xen_HK
dc.identifier.pmid20370815-
dc.identifier.scopuseid_2-s2.0-77956469323en_HK
dc.identifier.hkuros176797en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77956469323&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume52en_HK
dc.identifier.issue10en_HK
dc.identifier.spagee243en_HK
dc.identifier.epagee244en_HK
dc.identifier.isiWOS:000281641800004-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.issnl0012-1622-

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