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Article: Diagnostic difficulties in Sanfilippo disease

TitleDiagnostic difficulties in Sanfilippo disease
Authors
Chan, DKHLam, CWLam, STS
KeywordsAlpha-N-Acetylglucosaminidase
Diagnostic Pitfalls
Mpsiiib
Sanfilippo Disease Type B
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. 337-340+350 How to Cite?
AbstractWe reported on a 21 months old girl, diagnosed as Sanfilippo disease, MPSIIIB. Her mother was at 21 weeks of pregnancy when she first presented to us. The diagnostic pitfalls in the clinical, biochemical and genetic aspects were highlighted. The limited time frame for urgent molecular diagnosis, prenatal diagnostic tests and counselling issues were discussed.
Persistent Identifierhttp://hdl.handle.net/10722/148489
ISSN
1013-9923
2021 Impact Factor: 0.104
2020 SCImago Journal Rankings: 0.115
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorChan, DKHen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorLam, STSen_US
dc.date.accessioned2012-05-29T06:13:15Z-
dc.date.available2012-05-29T06:13:15Z-
dc.date.issued2006en_US
dc.identifier.citationHong Kong Journal Of Paediatrics, 2006, v. 11 n. 4, p. 337-340+350en_US
dc.identifier.issn1013-9923en_US
dc.identifier.urihttp://hdl.handle.net/10722/148489-
dc.description.abstractWe reported on a 21 months old girl, diagnosed as Sanfilippo disease, MPSIIIB. Her mother was at 21 weeks of pregnancy when she first presented to us. The diagnostic pitfalls in the clinical, biochemical and genetic aspects were highlighted. The limited time frame for urgent molecular diagnosis, prenatal diagnostic tests and counselling issues were discussed.en_US
dc.languageengen_US
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.aspen_US
dc.relation.ispartofHong Kong Journal of Paediatricsen_US
dc.subjectAlpha-N-Acetylglucosaminidaseen_US
dc.subjectDiagnostic Pitfallsen_US
dc.subjectMpsiiiben_US
dc.subjectSanfilippo Disease Type Ben_US
dc.titleDiagnostic difficulties in Sanfilippo diseaseen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-33750593465en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33750593465&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume11en_US
dc.identifier.issue4en_US
dc.identifier.spage337en_US
dc.identifier.epage340+350en_US
dc.publisher.placeHong Kongen_US
dc.identifier.issnl1013-9923-

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