Linked Life Data

8946177

Source:http://linkedlifedata.com/resource/pubmed/id/8946177

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1997-3-4
pubmed:abstractText
Arylsulfatase A (ASA) pseudodeficiency (Pd) was defined as the in vitro measurement of low enzyme activity in a healthy person. A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy (MLD). In Poland we estimated the incidence of the Pd allele at 6% and that of isolated 1788 mutation (loss of glycosylation site) at 3%. Out of 8 cases with neurological symptoms and low ASA activity, 2 were found to be homozygous for the Pd allele; 2 MLD patients had healthy siblings homozygous for the Pd allele and another patient's allele bore two mutations, Pd and that causing MLD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
301-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Arylsulfatase A pseudodeficiency--incidence in Poland.
pubmed:affiliation
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't