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rdf:type |
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lifeskim:mentions |
umls-concept:C0013023,
umls-concept:C0013421,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0205210,
umls-concept:C0205329,
umls-concept:C0205775,
umls-concept:C0332307,
umls-concept:C0439660,
umls-concept:C1314792,
umls-concept:C2348205
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pubmed:issue |
4
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pubmed:dateCreated |
1998-5-14
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pubmed:abstractText |
Hereditary progressive dystonia with pronounced diurnal fluctuation [(HPD)/dopa responsive dystonia (DRD)] is a childhood onset dystonia which responds to levodopa. Various clinical signs and symptoms of HPD/DRD have been recognised to date. Mutations in the GTP cyclohydrolase I (GTP-CH-I) gene were recently identified as the cause of HPD/ DRD. In the present study, the GTP-CH-I gene and the clinical features of eight HPD/DRD patients from six families were analysed to determine the correlations between clinical expression and the mutations in the GTP-CH-I gene.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-1520321,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-2265506,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-2574002,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-3504266,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-7501255,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-7542887,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-7544125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-7663943,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-7730309,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-7814018,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-7874165,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-7908789,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-8225319,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-8619546,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-8666288,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-8852666,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-8957022,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9576537-945938
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0022-3050
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
469-73
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:9576537-Adolescent,
pubmed-meshheading:9576537-Adult,
pubmed-meshheading:9576537-Age of Onset,
pubmed-meshheading:9576537-Case-Control Studies,
pubmed-meshheading:9576537-Circadian Rhythm,
pubmed-meshheading:9576537-DNA,
pubmed-meshheading:9576537-Disease Progression,
pubmed-meshheading:9576537-Dopamine Agents,
pubmed-meshheading:9576537-Exons,
pubmed-meshheading:9576537-Female,
pubmed-meshheading:9576537-GTP Cyclohydrolase,
pubmed-meshheading:9576537-Hereditary Sensory and Motor Neuropathy,
pubmed-meshheading:9576537-Heterozygote Detection,
pubmed-meshheading:9576537-Humans,
pubmed-meshheading:9576537-Japan,
pubmed-meshheading:9576537-Levodopa,
pubmed-meshheading:9576537-Male,
pubmed-meshheading:9576537-Middle Aged,
pubmed-meshheading:9576537-Mutation,
pubmed-meshheading:9576537-Pedigree,
pubmed-meshheading:9576537-Sequence Analysis, DNA
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pubmed:year |
1998
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pubmed:articleTitle |
Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.
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pubmed:affiliation |
Department of Medical Genetics, Nara Medical University, Kashihara, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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