Linked Life Data

6408977

Source:http://linkedlifedata.com/resource/pubmed/id/6408977

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1983-8-11
pubmed:abstractText
Three male siblings in a Japanese family were affected with beta-galactosidase-neuraminidase deficiency (galactosialidosis). One patient died at 45 years of age, and postmortem liver and brain tissues were studied enzymatically. The residual activity of neuraminidase was relatively high in these tissues. Neuraminidase activity did not change in the tissues after repeated freezing and thawing of the homogenates, whereas this enzyme in control tissues lost 30 to 60% of its activity. There was a profound deficiency of beta-galactosidase in the tissues of the patient. Michaelis constant, pH profiles, and cryostability were identical for the patient and control patients. Cathepsin B was moderately increased in activity in the patient's tissues.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0364-5134
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
497-503
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't