Linked Life Data

6146104

Source:http://linkedlifedata.com/resource/pubmed/id/6146104

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1984-8-17
pubmed:abstractText
In a four and a half-year-old boy with a progressive cerebral process in his last year of life the arylsulfatase A (ASA) and cerebroside sulfatase activity was lowered to values only slightly above those of metachromatic leukodystrophy (MLD) homozygotes. Morphologically, however, the brain showed a diffuse-disseminated sclerosis without any findings of MLD. The enzyme findings including the reduced ASA values in both parents suggested that our proband was a mixed heterozygote both of MLD and pseudo-ASA-deficiency, but casually suffered from that inflammatory demyelinating process. An additional biochemical finding was the moderate increase of brain sulfatides which can be seen in relation to the mixed heterozygosity for ASA deficiency.
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
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
59-62
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
Diffuse-disseminated sclerosis combined with partial arylsulfatase A (ASA) deficiency. Mixed heterozygosity of ASA- and pseudo-ASA-deficiency?
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't