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Article: Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
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TitleBiochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
 
AuthorsMak, CM2 4
Lam, CW1
Siu, TS4
Chan, KY2
Siu, WK2
Yeung, WL5
Hui, J3
Wong, VCN1
Low, LCK1
Ko, CH6
Fung, CW1
Chen, SP2
Yuen, YP2
Lee, HC2
Yau, E2
Chan, B2
Tong, SF1
Tam, S4
Chan, YW2
 
KeywordsCSF neurotransmitters
Dopa-responsive dystonia
Homovanillic acid
Hong Kong Chinese
Mutational analysis
Tyrosine hydroxylase deficiency
 
Issue Date2010
 
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
 
CitationMolecular Genetics And Metabolism, 2010, v. 99 n. 4, p. 431-433 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.ymgme.2009.12.011
 
AbstractTyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations with 5 missense, 2 nonsense and 1 splicing mutations in the TH gene, namely p.R153X, p.R169X, p.G294R, p.G315S, p.A385V, p.I394T, p.G408R, and c.1163+5G>C. The mutations of the TH gene in Chinese are heterogeneous. © 2009 Elsevier Inc. All rights reserved.
 
ISSN1096-7192
2013 Impact Factor: 2.827
 
DOIhttp://dx.doi.org/10.1016/j.ymgme.2009.12.011
 
ISI Accession Number IDWOS:000276001400014
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorMak, CM
 
dc.contributor.authorLam, CW
 
dc.contributor.authorSiu, TS
 
dc.contributor.authorChan, KY
 
dc.contributor.authorSiu, WK
 
dc.contributor.authorYeung, WL
 
dc.contributor.authorHui, J
 
dc.contributor.authorWong, VCN
 
dc.contributor.authorLow, LCK
 
dc.contributor.authorKo, CH
 
dc.contributor.authorFung, CW
 
dc.contributor.authorChen, SP
 
dc.contributor.authorYuen, YP
 
dc.contributor.authorLee, HC
 
dc.contributor.authorYau, E
 
dc.contributor.authorChan, B
 
dc.contributor.authorTong, SF
 
dc.contributor.authorTam, S
 
dc.contributor.authorChan, YW
 
dc.date.accessioned2010-09-06T08:02:28Z
 
dc.date.available2010-09-06T08:02:28Z
 
dc.date.issued2010
 
dc.description.abstractTyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations with 5 missense, 2 nonsense and 1 splicing mutations in the TH gene, namely p.R153X, p.R169X, p.G294R, p.G315S, p.A385V, p.I394T, p.G408R, and c.1163+5G>C. The mutations of the TH gene in Chinese are heterogeneous. © 2009 Elsevier Inc. All rights reserved.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationMolecular Genetics And Metabolism, 2010, v. 99 n. 4, p. 431-433 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.ymgme.2009.12.011
 
dc.identifier.citeulike6495004
 
dc.identifier.doihttp://dx.doi.org/10.1016/j.ymgme.2009.12.011
 
dc.identifier.epage433
 
dc.identifier.hkuros169509
 
dc.identifier.isiWOS:000276001400014
 
dc.identifier.issn1096-7192
2013 Impact Factor: 2.827
 
dc.identifier.issue4
 
dc.identifier.openurl
 
dc.identifier.pmid20056467
 
dc.identifier.scopuseid_2-s2.0-77649342143
 
dc.identifier.spage431
 
dc.identifier.urihttp://hdl.handle.net/10722/80105
 
dc.identifier.volume99
 
dc.languageeng
 
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
 
dc.publisher.placeUnited States
 
dc.relation.ispartofMolecular Genetics and Metabolism
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAge of Onset
 
dc.subject.meshAsian Continental Ancestry Group - genetics
 
dc.subject.meshChild
 
dc.subject.meshChild, Preschool
 
dc.subject.meshDystonia - genetics
 
dc.subject.meshFemale
 
dc.subject.meshGalactorrhea - genetics
 
dc.subject.meshHomovanillic Acid - metabolism
 
dc.subject.meshHong Kong
 
dc.subject.meshHumans
 
dc.subject.meshInfant
 
dc.subject.meshMale
 
dc.subject.meshMuscle Hypotonia - genetics
 
dc.subject.meshMutation
 
dc.subject.meshTyrosine 3-Monooxygenase - deficiency - genetics
 
dc.subjectCSF neurotransmitters
 
dc.subjectDopa-responsive dystonia
 
dc.subjectHomovanillic acid
 
dc.subjectHong Kong Chinese
 
dc.subjectMutational analysis
 
dc.subjectTyrosine hydroxylase deficiency
 
dc.titleBiochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
 
dc.typeArticle
 
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Author Affiliations
  1. The University of Hong Kong
  2. Princess Margaret Hospital Hong Kong
  3. Prince of Wales Hospital Hong Kong
  4. Queen Mary Hospital Hong Kong
  5. Alice Ho Miu Ling Nethersole Hospital
  6. Caritas Medical Centre Hong Kong