Linked Life Data

15328569

Source:http://linkedlifedata.com/resource/pubmed/id/15328569

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-8-25
pubmed:abstractText
We provide a 5-year follow-up of a patient previously reported to have no NAA signal on neurospectroscopy. At 8 years this boy was found to have profound neurological dysfunction: he had truncal ataxia, no expressive speech, behaviour abnormalities, secondary microcephaly and cognitive achievements corresponding to less than 12 months of age. He started to have generalized seizures at 5 years 9 months. Although not directly proven we assume an inborn error of NAA metabolism, possibly a defect of the anabolic enzyme L-aspartate N-acetyltransferase (EC 2.3.1.17).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
255-8
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Follow-up of a child with hypoacetylaspartia.
pubmed:affiliation
Department of Neurology, University Children's Hospital, Zurich, Switzerland. eugen.boltshauser@kispi.unizh.ch
pubmed:publicationType
Journal Article, Case Reports