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Article: A case of perinatal lethal form of hypophosphatasia; and review of literatures

TitleA case of perinatal lethal form of hypophosphatasia; and review of literatures
Authors
KeywordsAlkaline phosphatase
Hypophosphatasia
Perinatal lethal form of hypophosphatasia
TSALP gene
Issue Date2006
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
Hong Kong Journal Of Paediatrics, 2006, v. 11 n. 4, p. 341-346+350 How to Cite?
AbstractHypophosphatasia is a rare inborn error of metabolism. The disease is characterised by skeletal mineralisation and dentition defects. Mutations have been found in the TNSALP gene in various forms of hypophosphatasia. We report the first Chinese case of perinatal lethal form of hypophosphatasia due to previously reported pathogenic compound heterozygous mutation in the TNSALP gene; and successfully applied clinically in prenatal diagnostic testing. The authors emphasised the importance of accurate diagnosis of fetal presentation of skeletal dysplasia for genetic counselling, and discussed its differential diagnoses.
Persistent Identifierhttp://hdl.handle.net/10722/148490
ISSN
2015 Impact Factor: 0.194
2015 SCImago Journal Rankings: 0.123
References

 

DC FieldValueLanguage
dc.contributor.authorLam, ACFen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorTang, MHYen_HK
dc.contributor.authorChu, JWYen_HK
dc.contributor.authorLam, STSen_HK
dc.date.accessioned2012-05-29T06:13:16Z-
dc.date.available2012-05-29T06:13:16Z-
dc.date.issued2006en_HK
dc.identifier.citationHong Kong Journal Of Paediatrics, 2006, v. 11 n. 4, p. 341-346+350en_HK
dc.identifier.issn1013-9923en_HK
dc.identifier.urihttp://hdl.handle.net/10722/148490-
dc.description.abstractHypophosphatasia is a rare inborn error of metabolism. The disease is characterised by skeletal mineralisation and dentition defects. Mutations have been found in the TNSALP gene in various forms of hypophosphatasia. We report the first Chinese case of perinatal lethal form of hypophosphatasia due to previously reported pathogenic compound heterozygous mutation in the TNSALP gene; and successfully applied clinically in prenatal diagnostic testing. The authors emphasised the importance of accurate diagnosis of fetal presentation of skeletal dysplasia for genetic counselling, and discussed its differential diagnoses.en_HK
dc.languageengen_US
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.aspen_HK
dc.relation.ispartofHong Kong Journal of Paediatricsen_HK
dc.subjectAlkaline phosphataseen_HK
dc.subjectHypophosphatasiaen_HK
dc.subjectPerinatal lethal form of hypophosphatasiaen_HK
dc.subjectTSALP geneen_HK
dc.titleA case of perinatal lethal form of hypophosphatasia; and review of literaturesen_HK
dc.typeArticleen_HK
dc.identifier.emailLam, CW: cwlam8@hku.hken_HK
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityTang, MHY=rp01701en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-33750598612en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33750598612&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume11en_HK
dc.identifier.issue4en_HK
dc.identifier.spage341en_HK
dc.identifier.epage346+350en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridLam, ACF=12782043600en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridTang, MHY=8943401300en_HK
dc.identifier.scopusauthoridChu, JWY=15051444300en_HK
dc.identifier.scopusauthoridLam, STS=7402279428en_HK

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