Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2001-3-12
pubmed:abstractText
Dopa-responsive dystonia (DRD) and tetrahydrobiopterin (BH4) defects are inherited disorders characterized by monoamine neurotransmitter deficiency with decreased activity of one of the BH4-metabolizing enzymes. The aim of the study was to determine the utility of cultured skin fibroblasts for the diagnosis of these diseases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/5,6,7,8-tetrahydrobiopterin, http://linkedlifedata.com/resource/pubmed/chemical/6-pyruvoyltetrahydropterin synthase, http://linkedlifedata.com/resource/pubmed/chemical/Alcohol Oxidoreductases, http://linkedlifedata.com/resource/pubmed/chemical/Biopterin, http://linkedlifedata.com/resource/pubmed/chemical/Cell Extracts, http://linkedlifedata.com/resource/pubmed/chemical/Cytokines, http://linkedlifedata.com/resource/pubmed/chemical/Dihydropteridine Reductase, http://linkedlifedata.com/resource/pubmed/chemical/Dihydroxyphenylalanine, http://linkedlifedata.com/resource/pubmed/chemical/Dopamine Agents, http://linkedlifedata.com/resource/pubmed/chemical/GTP Cyclohydrolase, http://linkedlifedata.com/resource/pubmed/chemical/Neopterin, http://linkedlifedata.com/resource/pubmed/chemical/Phosphorus-Oxygen Lyases, http://linkedlifedata.com/resource/pubmed/chemical/sepiapterin reductase
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0009-9147
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
477-85
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:11238300-Alcohol Oxidoreductases, pubmed-meshheading:11238300-Biopterin, pubmed-meshheading:11238300-Cell Extracts, pubmed-meshheading:11238300-Cells, Cultured, pubmed-meshheading:11238300-Cytokines, pubmed-meshheading:11238300-Dihydropteridine Reductase, pubmed-meshheading:11238300-Dihydroxyphenylalanine, pubmed-meshheading:11238300-Dopamine Agents, pubmed-meshheading:11238300-Dystonia, pubmed-meshheading:11238300-Female, pubmed-meshheading:11238300-Fibroblasts, pubmed-meshheading:11238300-GTP Cyclohydrolase, pubmed-meshheading:11238300-Humans, pubmed-meshheading:11238300-Male, pubmed-meshheading:11238300-Metabolism, Inborn Errors, pubmed-meshheading:11238300-Neopterin, pubmed-meshheading:11238300-Phosphorus-Oxygen Lyases, pubmed-meshheading:11238300-Reference Values, pubmed-meshheading:11238300-Skin
pubmed:year
2001
pubmed:articleTitle
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
pubmed:affiliation
Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't