Linked Life Data

605780

Source:http://linkedlifedata.com/resource/pubmed/id/605780

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1978-4-17
pubmed:abstractText
Two children are reported, who became diseased at the age of 4 and 2 years, respectively, with progressive upper motor neuron symptoms leading to severe disability within a few years. The boy died at age 10 and autopsy disclosed a severe gangliolipidosis throughout the central nervous system, maximal in the brain stem and cerebrellum, corresponding with his early and dominantly bublar symptoms. The girl is still living, although severly disabled. The etiology was confirmed through biochemical studies which showed lower activity of galactosaminidase and galactosidase in frontal lobe tissue from the boy, in liver tissue from the girl. The activity of galactosaminidase A isoenzyme was more than 50 per cent lower in serum from the girl and in serum from healthy relatives of the boy, the father, mother and one of two brothers. Furthermore, the galactosidease activity was within or below the lower normal range limit in leucocytes from relatives of the boy with exception of the father. This abnormality was also encountered in serum from our girl patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0001-6314
pubmed:author
pubmed:issnType
Print
pubmed:volume
56
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
587-602
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1977
pubmed:articleTitle
Juvenile neurolipidosis of Bernheimer-Seitelberger's type. Histopathological and biochemical findings.
pubmed:publicationType
Journal Article, Case Reports