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Article: NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome

TitleNMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome
Authors
Lam, CWLaw, CYLeung, KFLai, CKChen, SPLChan, BChan, KYYuen, LYPMak, CMChan, AYW
KeywordsDravet syndrome
Dual molecular diagnoses
NMR spectroscopy
β-Ureidopropionase deficiency
Issue Date2015
Citation
Clinica Chimica Acta, 2015, v. 440, p. 201-204 How to Cite?
DOI: http://dx.doi.org/10.1016/j.cca.2014.10.030
Persistent Identifierhttp://hdl.handle.net/10722/212132
ISI Accession Number ID
WOS:000349573900037

 

DC FieldValueLanguage
dc.contributor.authorLam, CW-
dc.contributor.authorLaw, CY-
dc.contributor.authorLeung, KF-
dc.contributor.authorLai, CK-
dc.contributor.authorChen, SPL-
dc.contributor.authorChan, B-
dc.contributor.authorChan, KY-
dc.contributor.authorYuen, LYP-
dc.contributor.authorMak, CM-
dc.contributor.authorChan, AYW-
dc.date.accessioned2015-07-21T02:24:11Z-
dc.date.available2015-07-21T02:24:11Z-
dc.date.issued2015-
dc.identifier.citationClinica Chimica Acta, 2015, v. 440, p. 201-204-
dc.identifier.urihttp://hdl.handle.net/10722/212132-
dc.languageeng-
dc.relation.ispartofClinica Chimica Acta-
dc.subjectDravet syndrome-
dc.subjectDual molecular diagnoses-
dc.subjectNMR spectroscopy-
dc.subjectβ-Ureidopropionase deficiency-
dc.titleNMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome-
dc.typeArticle-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.emailLaw, CY: ericlaw@pathology.hku.hk-
dc.identifier.emailChen, SPL: chenpls@hku.hk-
dc.identifier.emailYuen, LYP: yuenyp@hku.hk-
dc.identifier.emailMak, CM: chloemak@hkucc.hku.hk-
dc.identifier.authorityLam, CW=rp00260-
dc.identifier.authorityLaw, CY=rp01586-
dc.identifier.doi10.1016/j.cca.2014.10.030-
dc.identifier.scopuseid_2-s2.0-84916894944-
dc.identifier.hkuros245425-
dc.identifier.volume440-
dc.identifier.spage201-
dc.identifier.epage204-
dc.identifier.isiWOS:000349573900037-

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