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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
|
pubmed:dateCreated |
1982-4-22
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pubmed:abstractText |
THe histopathological findings in a sural nerve biopsy of a new distinct variant of metachromatic leukodystrophy (MLD) are compared to those of classical MLD. The clinical and histological features are typical of a sulfatide lipidosis, yet in vitro activities of arylsulfatases A and B and cerebroside sulfatase are normal. Intact skin fibroblasts, when cultured in a medium supplemented with labelled sulfatide, show impaired in vivo sulfatide hydrolysis. A deficiency of the requisite activator protein is postulated.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:issn |
0001-6322
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
55
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
281-7
|
pubmed:dateRevised |
2007-11-9
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pubmed:meshHeading |
pubmed-meshheading:6120612-Adult,
pubmed-meshheading:6120612-Arylsulfatases,
pubmed-meshheading:6120612-Biopsy,
pubmed-meshheading:6120612-Cerebroside-Sulfatase,
pubmed-meshheading:6120612-Consanguinity,
pubmed-meshheading:6120612-Female,
pubmed-meshheading:6120612-Humans,
pubmed-meshheading:6120612-Leukodystrophy, Metachromatic,
pubmed-meshheading:6120612-Sural Nerve
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pubmed:year |
1981
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pubmed:articleTitle |
The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy.
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pubmed:publicationType |
Journal Article,
Case Reports
|