Linked Life Data

17523120

Source:http://linkedlifedata.com/resource/pubmed/id/17523120

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2007-5-24
pubmed:abstractText
Glutaric aciduria type I is an autosomal recessive inborn error of metabolism that is due to a deficiency of the enzyme glutaryl-CoA dehydrogenase, which gives rise to an accumulation of glutaric and 3-hydroxyglutaric acids in biological fluids. Clinical features present as a sudden-onset severe neurological disorder, characterised by extrapyramidal signs (dystonia-dyskinesia), hypotonia, irritability, macrocephaly and degeneration of the basal ganglia; it may also manifest with unspecific symptoms, such as hypotonia and psychomotor retardation.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0210-0010
pubmed:author
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
610-5
pubmed:dateRevised
2009-5-28
pubmed:meshHeading
pubmed:articleTitle
[Glutaric aciduria type I. Clinical, biochemical and molecular findings in six patients in Venezuela].
pubmed:affiliation
Laboratorio de Estudio Selectivo, Centro de Biociencias y Medicina Molecular, IDEA., 1080 Caracas, Venezuela. amahfoud@idea.org.ve
pubmed:publicationType
Journal Article, English Abstract, Case Reports, Research Support, Non-U.S. Gov't