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Article: Galactorrhea-A strong clinical clue towards the diagnosis of neurotransmitter disease

TitleGalactorrhea-A strong clinical clue towards the diagnosis of neurotransmitter disease
Authors
Issue Date2006
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/braindev
Citation
Brain And Development, 2006, v. 28 n. 6, p. 389-391 How to Cite?
AbstractTwo siblings from a Hong Kong Chinese family are diagnosed to have heterozygous mutation in tyrosine hydroxylase gene-a novel mutation R169X and the common Dutch mutation R233H. Presented with developmental delay and dystonia before 6 months of age, both had hyperprolactinemia with persistent galactorrhea present in the elder brother since birth. Serum prolactin level is a good screening test for those suspected of underlying neurotransmitter diseases. To our knowledge, this is the first Chinese family diagnosed with such condition. Clinicians must be aware of this rare disease especially in those unexplained 'cerebral palsy' like children. © 2005 Elsevier B.V. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148472
ISSN
2015 Impact Factor: 1.785
2015 SCImago Journal Rankings: 0.840
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYeung, WLen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorHui, Jen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorWu, SPen_US
dc.date.accessioned2012-05-29T06:13:10Z-
dc.date.available2012-05-29T06:13:10Z-
dc.date.issued2006en_US
dc.identifier.citationBrain And Development, 2006, v. 28 n. 6, p. 389-391en_US
dc.identifier.issn0387-7604en_US
dc.identifier.urihttp://hdl.handle.net/10722/148472-
dc.description.abstractTwo siblings from a Hong Kong Chinese family are diagnosed to have heterozygous mutation in tyrosine hydroxylase gene-a novel mutation R169X and the common Dutch mutation R233H. Presented with developmental delay and dystonia before 6 months of age, both had hyperprolactinemia with persistent galactorrhea present in the elder brother since birth. Serum prolactin level is a good screening test for those suspected of underlying neurotransmitter diseases. To our knowledge, this is the first Chinese family diagnosed with such condition. Clinicians must be aware of this rare disease especially in those unexplained 'cerebral palsy' like children. © 2005 Elsevier B.V. All rights reserved.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/braindeven_US
dc.relation.ispartofBrain and Developmenten_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshDevelopmental Disabilities - Diagnosis - Geneticsen_US
dc.subject.meshDystonia - Diagnosis - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGalactorrhea - Diagnosis - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshHyperprolactinemia - Diagnosis - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshSynaptic Transmission - Geneticsen_US
dc.subject.meshTyrosine 3-Monooxygenase - Geneticsen_US
dc.titleGalactorrhea-A strong clinical clue towards the diagnosis of neurotransmitter 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.doi10.1016/j.braindev.2005.10.012en_US
dc.identifier.pmid16376043en_US
dc.identifier.scopuseid_2-s2.0-33746522798en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33746522798&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume28en_US
dc.identifier.issue6en_US
dc.identifier.spage389en_US
dc.identifier.epage391en_US
dc.identifier.isiWOS:000237936300009-
dc.publisher.placeNetherlandsen_US

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