Linked Life Data

17651950

Source:http://linkedlifedata.com/resource/pubmed/id/17651950

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2007-10-1
pubmed:abstractText
Menkes disease is a rare X-linked disorder due to a defect in intracellular copper transport. Clinical symptoms appear during the first months of life, with a progressive developmental delay leading to death within a few years. Diagnosis is confirmed by the demonstration of copper retention in fibroblasts and/or DNA testing. However, these investigations are complexes and time consuming.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0929-693X
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1216-8
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
[Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs].
pubmed:affiliation
Unité de soins intensifs, hôpital Clocheville, CHRU de Tours, 49, boulevard Béranger, 37044 Tours cedex 01, France.
pubmed:publicationType
Journal Article, English Abstract, Case Reports