Linked Life Data

16376043

Source:http://linkedlifedata.com/resource/pubmed/id/16376043

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2006-5-3
pubmed:abstractText
Two 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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0387-7604
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
389-91
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease.
pubmed:affiliation
Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China. wailanyeung@cuhk.edu.hk
pubmed:publicationType
Journal Article, Case Reports