Linked Life Data

11350190

Source:http://linkedlifedata.com/resource/pubmed/id/11350190

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-5-14
pubmed:abstractText
Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) responsiveness in PAH deficiency is at least partly independent from PAH genotype.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1096-7192
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Academic Press.
pubmed:issnType
Print
pubmed:volume
73
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
104-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.
pubmed:affiliation
Division of Metabolic and Endocrine Diseases, University-Children's Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany. martin_lindner@med.uni-heidelburg.de
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't