Linked Life Data

17420847

Source:http://linkedlifedata.com/resource/pubmed/id/17420847

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-4-10
pubmed:abstractText
Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes disease are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0004-282X
pubmed:author
pubmed:issnType
Print
pubmed:volume
65
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
157-60
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Menkes' disease: case report.
pubmed:affiliation
Neurology and Neuropediatrics Services, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 181, 80060-900 Curitiba, PR, Brazil.
pubmed:publicationType
Journal Article, Case Reports