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Article: Homozygous pyruvate kinase deficiency in Hong Kong ethnic minorities

TitleHomozygous pyruvate kinase deficiency in Hong Kong ethnic minorities
Authors
Issue Date1992
Citation
Journal Of Paediatrics And Child Health, 1992, v. 28 n. 4, p. 334-336 How to Cite?
AbstractThree cases of pyruvate kinase (PK) deficiency resulting in congenital haemolytic anaemia with transfusion dependency are described. These cases resulted trom consanguineous marriages in non-Han Chinese and include a pair of twins. We believe this to be the first documentation of homozygous PK deficiency in the Hong Kong population. The diagnosis was masked due to transfusion dependency in each case stressing the need to take a sample of pretransfusion blood for PK enzyme assay, and for family studies, when this disorder is suspected.
Persistent Identifierhttp://hdl.handle.net/10722/147921
ISSN
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWei, DCen_US
dc.contributor.authorChan, LCen_US
dc.contributor.authorLi, Aen_US
dc.date.accessioned2012-05-29T06:09:54Z-
dc.date.available2012-05-29T06:09:54Z-
dc.date.issued1992en_US
dc.identifier.citationJournal Of Paediatrics And Child Health, 1992, v. 28 n. 4, p. 334-336en_US
dc.identifier.issn0004-993Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/147921-
dc.description.abstractThree cases of pyruvate kinase (PK) deficiency resulting in congenital haemolytic anaemia with transfusion dependency are described. These cases resulted trom consanguineous marriages in non-Han Chinese and include a pair of twins. We believe this to be the first documentation of homozygous PK deficiency in the Hong Kong population. The diagnosis was masked due to transfusion dependency in each case stressing the need to take a sample of pretransfusion blood for PK enzyme assay, and for family studies, when this disorder is suspected.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Paediatrics and Child Healthen_US
dc.subject.meshAnemia, Hemolytic - Etiologyen_US
dc.subject.meshBlood Transfusionen_US
dc.subject.meshConsanguinityen_US
dc.subject.meshDiseases In Twinsen_US
dc.subject.meshErythrocytes - Enzymologyen_US
dc.subject.meshEthnic Groups - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshPyruvate Kinase - Deficiency - Geneticsen_US
dc.titleHomozygous pyruvate kinase deficiency in Hong Kong ethnic minoritiesen_US
dc.typeArticleen_US
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid1497965-
dc.identifier.scopuseid_2-s2.0-0026637835en_US
dc.identifier.volume28en_US
dc.identifier.issue4en_US
dc.identifier.spage334en_US
dc.identifier.epage336en_US
dc.identifier.isiWOS:A1992JG51800019-

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