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Article: Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong

TitleBiochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong
Authors
Mak, CMLam, CWChim, SSiu, TSNg, KFTam, S
KeywordsExpanded newborn screening
FAH gene
Hong Kong Chinese
Inborn errors of metabolism
Novel mutation
Tyrosinemia type I
Issue Date2013
Citation
Clinical Biochemistry, 2013, v. 46 n. 1-2, p. 155-159 How to Cite?
DOI: http://dx.doi.org/10.1016/j.clinbiochem.2012.09.010
Persistent Identifierhttp://hdl.handle.net/10722/189586
ISI Accession Number ID
WOS:000313406800033

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorChim, Sen_US
dc.contributor.authorSiu, TSen_US
dc.contributor.authorNg, KFen_US
dc.contributor.authorTam, Sen_US
dc.date.accessioned2013-09-17T14:48:03Z-
dc.date.available2013-09-17T14:48:03Z-
dc.date.issued2013en_US
dc.identifier.citationClinical Biochemistry, 2013, v. 46 n. 1-2, p. 155-159en_US
dc.identifier.urihttp://hdl.handle.net/10722/189586-
dc.languageengen_US
dc.relation.ispartofClin Biochemen_US
dc.subjectExpanded newborn screening-
dc.subjectFAH gene-
dc.subjectHong Kong Chinese-
dc.subjectInborn errors of metabolism-
dc.subjectNovel mutation-
dc.subjectTyrosinemia type I-
dc.titleBiochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kongen_US
dc.typeArticleen_US
dc.identifier.emailMak, CM: chloemak@hkucc.hku.hken_US
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_US
dc.identifier.emailTam, S: stam@hkucc.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.identifier.doi10.1016/j.clinbiochem.2012.09.010-
dc.identifier.pmid23000314-
dc.identifier.scopuseid_2-s2.0-84871806486-
dc.identifier.hkuros222689en_US
dc.identifier.volume46-
dc.identifier.issue1-2-
dc.identifier.spage155en_US
dc.identifier.epage159en_US
dc.identifier.isiWOS:000313406800033-

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