Linked Life Data

233194

Source:http://linkedlifedata.com/resource/pubmed/id/233194

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1980-11-20
pubmed:abstractText
Skin and conjunctival biopsy specimens from fourteen patients with neuronal storage diseases were investigated using an electron microscope. The diseases were Tay-Sachs disease, ceroid-lipofuscinosis (Jansky-Bielschowsky type), Niemann-Pick disease (type B), highly suspected adrenoleukodystrophy, I-cell disease, mucolipidosis of the beta-galactosidase deficient type, Hurler disease, Hunter disease and Morquio disease. This examination provided valuable diagnostic information on some neuronal storage diseases but not on Morquio disease or highly suspected adrenoleukodystrophy. False negative results may sometimes occur using this examination method. However, this examination suggests the usefulness of skin and conjunctival biopsy specimens as a diagnostic tool in some neuronal storage diseases.
pubmed:language
eng
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:author
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
16-25
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Electron microscopic examination of skin and conjunctival biopsy specimens in neuronal storage diseases.
pubmed:publicationType
Journal Article