Linked Life Data

14705166

Source:http://linkedlifedata.com/resource/pubmed/id/14705166

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-1-5
pubmed:abstractText
In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH(4)) deficiency, leading to hyperphenylalaninemia (HPA) and impaired biogenic amine deficiency. So far, more than 150 patients scattered worldwide have been reported and major progresses have been made in the understanding of physiopathology, screening, diagnosis, treatment, and molecular genetics of this inherited disease. Present knowledge on different aspects of DHPR deficiency, largely derived from authors' personal experience, is traced in this article.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0198-6325
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley Periodicals, Inc.
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
127-50
pubmed:dateRevised
2007-3-22
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Dihydropteridine reductase deficiency in man: from biology to treatment.
pubmed:affiliation
Department of Pediatrics, University of Torino, Italy. alberto.ponzone@unito.it
pubmed:publicationType
Journal Article, Review