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Article: X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation

TitleX-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation
Authors
Cho, SYLam, CWTong, SFSiu, CWK
KeywordsGlycogen storage disease
Liver glycogenosis
Phosphorylase kinase deficiency
X-linked
Issue Date2013
Citation
Clinica Chimica Acta, 2013, v. 426, p. 75-78 How to Cite?
DOI: http://dx.doi.org/10.1016/j.cca.2013.08.026
Persistent Identifierhttp://hdl.handle.net/10722/212137
ISI Accession Number ID
WOS:000328809000014

 

DC FieldValueLanguage
dc.contributor.authorCho, SY-
dc.contributor.authorLam, CW-
dc.contributor.authorTong, SF-
dc.contributor.authorSiu, CWK-
dc.date.accessioned2015-07-21T02:24:24Z-
dc.date.available2015-07-21T02:24:24Z-
dc.date.issued2013-
dc.identifier.citationClinica Chimica Acta, 2013, v. 426, p. 75-78-
dc.identifier.urihttp://hdl.handle.net/10722/212137-
dc.languageeng-
dc.relation.ispartofClinica Chimica Acta-
dc.subjectGlycogen storage disease-
dc.subjectLiver glycogenosis-
dc.subjectPhosphorylase kinase deficiency-
dc.subjectX-linked-
dc.titleX-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation-
dc.typeArticle-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.emailSiu, CWK: cwksiu@hku.hk-
dc.identifier.authorityLam, CW=rp00260-
dc.identifier.doi10.1016/j.cca.2013.08.026-
dc.identifier.scopuseid_2-s2.0-84884728000-
dc.identifier.hkuros245430-
dc.identifier.volume426-
dc.identifier.spage75-
dc.identifier.epage78-
dc.identifier.isiWOS:000328809000014-

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