Linked Life Data

21117323

Source:http://linkedlifedata.com/resource/pubmed/id/21117323

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2010-11-30
pubmed:abstractText
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase. HT1 manifests with severe liver and kidney impairment and associates with an increased risk of liver cancer development. The aim of our study is to present a detailed clinical picture and results of biochemical and molecular genetic analyses in 11 Czech patients with HT1 diagnosed in our clinic within 1982-2006.
pubmed:language
cze
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0008-7335
pubmed:author
pubmed:issnType
Print
pubmed:volume
149
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
411-6
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].
pubmed:affiliation
Univerzita Karlova v Praze, lékarská fakulta, Klinika detského a dorostového lékarství VFN.
pubmed:publicationType
Journal Article, English Abstract