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Article: Vanishing white matter disease: The first reported chinese patient

TitleVanishing white matter disease: The first reported chinese patient
Authors
Wong, SSNLuk, DCKWong, VCNScheper, GCvan der Knaap, M
KeywordsLeukoencephalopathy
Translation initiation factor EIF2B
Vanishing white matter disease
Issue Date2008
PublisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.com
Citation
Journal Of Child Neurology, 2008, v. 23 n. 6, p. 710-714 How to Cite?
DOI: http://dx.doi.org/10.1177/0883073808314154
AbstractVanishing white matter disease is a rare neurological disease. The majority of patients reported are Caucasian individuals. We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4, followed by a brief review of the disease. © 2008 Sage Publications.
Persistent Identifierhttp://hdl.handle.net/10722/143508
ISSN
0883-0738
2023 Impact Factor: 2.0
2023 SCImago Journal Rankings: 0.683
ISI Accession Number ID
WOS:000256033800020
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorWong, SSNen_HK
dc.contributor.authorLuk, DCKen_HK
dc.contributor.authorWong, VCNen_HK
dc.contributor.authorScheper, GCen_HK
dc.contributor.authorvan der Knaap, Men_HK
dc.date.accessioned2011-12-12T03:51:21Z-
dc.date.available2011-12-12T03:51:21Z-
dc.date.issued2008en_HK
dc.identifier.citationJournal Of Child Neurology, 2008, v. 23 n. 6, p. 710-714en_HK
dc.identifier.issn0883-0738en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143508-
dc.description.abstractVanishing white matter disease is a rare neurological disease. The majority of patients reported are Caucasian individuals. We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4, followed by a brief review of the disease. © 2008 Sage Publications.en_HK
dc.languageengen_US
dc.publisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.comen_HK
dc.relation.ispartofJournal of Child Neurologyen_HK
dc.subjectLeukoencephalopathyen_HK
dc.subjectTranslation initiation factor EIF2Ben_HK
dc.subjectVanishing white matter diseaseen_HK
dc.subject.meshAspartic Acid/analogs & derivatives/analysisen_US
dc.subject.meshBrain/pathologyen_US
dc.subject.meshCerebral Ventricles/pathologyen_US
dc.subject.meshChilden_US
dc.subject.meshCholine/analysisen_US
dc.subject.meshConsanguinityen_US
dc.subject.mesh*DNA Mutational Analysisen_US
dc.subject.meshEukaryotic Initiation Factor-2B/*geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Counselingen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHereditary Central Nervous System Demyelinatingen_US
dc.subject.meshDiseases/diagnosis/*geneticsen_US
dc.subject.meshHeterozygote Detectionen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshLactic Acid/analysisen_US
dc.subject.meshMagnetic Resonance Imagingen_US
dc.subject.meshMagnetic Resonance Spectroscopyen_US
dc.subject.meshNeurologic Examinationen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPhenotypeen_US
dc.titleVanishing white matter disease: The first reported chinese patienten_HK
dc.typeArticleen_HK
dc.identifier.emailWong, VCN:vcnwong@hku.hken_HK
dc.identifier.authorityWong, VCN=rp00334en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1177/0883073808314154en_HK
dc.identifier.pmid18539998-
dc.identifier.scopuseid_2-s2.0-44149104354en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-44149104354&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume23en_HK
dc.identifier.issue6en_HK
dc.identifier.spage710en_HK
dc.identifier.epage714en_HK
dc.identifier.isiWOS:000256033800020-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWong, SSN=15521579900en_HK
dc.identifier.scopusauthoridLuk, DCK=14043516000en_HK
dc.identifier.scopusauthoridWong, VCN=7202525632en_HK
dc.identifier.scopusauthoridScheper, GC=6701739009en_HK
dc.identifier.scopusauthoridvan der Knaap, M=7006627134en_HK
dc.identifier.issnl0883-0738-

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