Linked Life Data

15573311

Source:http://linkedlifedata.com/resource/pubmed/id/15573311

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2004-12-1
pubmed:abstractText
Macrocephaly is a pivotal clinical sign, associated with multiple neurological diseases, particularly neurometabolical ones, such as the glutaric aciduria type I (GA I). This aciduria resulting from the genetical deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH). Is a relatively common cause of acute metabolic brain damage in early childhood. We report on one case of GA I, with early manifestations since fetal period and a novel mutation.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0210-0010
pubmed:author
pubmed:issnType
Print
pubmed:volume
39
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
939-42
pubmed:dateRevised
2009-5-28
pubmed:meshHeading
pubmed:articleTitle
[In utero macrocephaly as clinical manifestation of glutaric aciduria type I. Report of a novel mutation].
pubmed:affiliation
Laboratorio de Estudio Selectivo, Centro de Biociencias y Medicina Molecular, Instituto de Estudios Avanzados-IDEA, Caracas, Venezuela. amahfoud@idea.org.ve
pubmed:publicationType
Journal Article, English Abstract, Case Reports