Linked Life Data

3925366

Source:http://linkedlifedata.com/resource/pubmed/id/3925366

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1985-8-9
pubmed:abstractText
Light microscopic, histochemical and electron-microscopic studies were made on the brain of a case (No. 1) with Sanfilippo disease, type A. In this case pigment preparations of the isocortex have been demonstrated. Ultrastructural investigations of the skin biopsies (his two male siblings) were also studied (cases 2, 3). Our three siblings of MPS III A, have demonstrated ceroid lipofuscin storage in the brain (case No. 1) and skin biopsies (cases No. 2 and 3) in addition to histological features of MPS. The biochemical studies (enzymatic identification) were made in the cultures of fibroblasts. Also, urine quantitative studies for MPS and N-sulfonate to hexosamino ratio were performed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
98-105
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Sanfilippo disease, type A with some features of ceroid lipofuscinosis.
pubmed:publicationType
Journal Article