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Article: First reported case of prenatal diagnosis for pyruvate kinase deficiency in a chinese family

TitleFirst reported case of prenatal diagnosis for pyruvate kinase deficiency in a chinese family
Authors
KeywordsChinese
Prenatal diagnosis
Pyruvate kinase deficiency
Issue Date2011
PublisherManey Publishing. The Journal's web site is located at http://maney.co.uk/index.php/journals/hem/
Citation
Hematology, 2011, v. 16 n. 6, p. 377-379 How to Cite?
AbstractWe describe the first case of prenatal diagnosis for pyruvate kinase (PK) deficiency in Chinese and emphasize that this disease is an important differential diagnosis in pediatric patients with non-spherocytic hemolytic anemia. A Han Chinese child with a history of severe transfusion-dependent hemolytic anemia was diagnosed to have PK deficiency. Prenatal diagnosis was performed on the second child based on the genetic findings from the family. The index patient was compound heterozygous for a missense mutation (c.1073G.A. p.Gly358Glu) from his father and a large deletion (c.283z1914_c.1434del5006) from his mother. The fetus was a simple heterozygote for the paternal mutation. Pregnancy was allowed to continue and a healthy baby was born. Severe PK deficiency warranting prenatal diagnosis is seen in Han Chinese. Genetic characterization and genotype-phenotype correlation studies on PKLR in different populations are indicated to better define the role of prenatal diagnosis in PK deficiency. © W. S. Maney & Son Ltd 2011.
Persistent Identifierhttp://hdl.handle.net/10722/148667
ISSN
2015 Impact Factor: 1.385
2015 SCImago Journal Rankings: 0.420
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorSo, CCen_HK
dc.contributor.authorTang, Men_HK
dc.contributor.authorLi, CHen_HK
dc.contributor.authorHa, SYen_HK
dc.contributor.authorPissard, Sen_HK
dc.contributor.authorChan, LCen_HK
dc.date.accessioned2012-05-29T06:14:32Z-
dc.date.available2012-05-29T06:14:32Z-
dc.date.issued2011en_HK
dc.identifier.citationHematology, 2011, v. 16 n. 6, p. 377-379en_HK
dc.identifier.issn1024-5332en_HK
dc.identifier.urihttp://hdl.handle.net/10722/148667-
dc.description.abstractWe describe the first case of prenatal diagnosis for pyruvate kinase (PK) deficiency in Chinese and emphasize that this disease is an important differential diagnosis in pediatric patients with non-spherocytic hemolytic anemia. A Han Chinese child with a history of severe transfusion-dependent hemolytic anemia was diagnosed to have PK deficiency. Prenatal diagnosis was performed on the second child based on the genetic findings from the family. The index patient was compound heterozygous for a missense mutation (c.1073G.A. p.Gly358Glu) from his father and a large deletion (c.283z1914_c.1434del5006) from his mother. The fetus was a simple heterozygote for the paternal mutation. Pregnancy was allowed to continue and a healthy baby was born. Severe PK deficiency warranting prenatal diagnosis is seen in Han Chinese. Genetic characterization and genotype-phenotype correlation studies on PKLR in different populations are indicated to better define the role of prenatal diagnosis in PK deficiency. © W. S. Maney & Son Ltd 2011.en_HK
dc.languageengen_US
dc.publisherManey Publishing. The Journal's web site is located at http://maney.co.uk/index.php/journals/hem/en_HK
dc.relation.ispartofHematologyen_HK
dc.rightsHematology. Copyright © Maney Publishing.-
dc.subjectChineseen_HK
dc.subjectPrenatal diagnosisen_HK
dc.subjectPyruvate kinase deficiencyen_HK
dc.subject.meshDNA Mutational Analysis-
dc.subject.meshFamily Health-
dc.subject.meshFetal Diseases - diagnosis - enzymology - genetics-
dc.subject.meshPrenatal Diagnosis-
dc.subject.meshPyruvate Kinase - deficiency - genetics-
dc.titleFirst reported case of prenatal diagnosis for pyruvate kinase deficiency in a chinese familyen_HK
dc.typeArticleen_HK
dc.identifier.emailSo, CC: scc@pathology.hku.hken_HK
dc.identifier.emailTang, M: mhytang@hkucc.hku.hken_HK
dc.identifier.emailChan, LC: chanlc@hkucc.hku.hken_HK
dc.identifier.authoritySo, CC=rp00391en_HK
dc.identifier.authorityTang, M=rp01701en_HK
dc.identifier.authorityChan, LC=rp00373en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1179/102453311X13127324303317en_HK
dc.identifier.pmid22183074-
dc.identifier.scopuseid_2-s2.0-82955163999en_HK
dc.identifier.hkuros200830-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-82955163999&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume16en_HK
dc.identifier.issue6en_HK
dc.identifier.spage377en_HK
dc.identifier.epage379en_HK
dc.identifier.isiWOS:000298080900009-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridSo, CC=7102919978en_HK
dc.identifier.scopusauthoridTang, M=8943401300en_HK
dc.identifier.scopusauthoridLi, CH=8354475100en_HK
dc.identifier.scopusauthoridHa, SY=7202501115en_HK
dc.identifier.scopusauthoridPissard, S=6602199807en_HK
dc.identifier.scopusauthoridChan, LC=7403540707en_HK

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