Source:http://linkedlifedata.com/resource/pubmed/id/11119053
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11
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pubmed:dateCreated |
2001-2-2
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pubmed:abstractText |
Inherited deficiency of lysosomal hydrolase often displays different clinical features. However, a greatly reduced enzyme activity may be observed in healthy individuals. This pseudo-deficiency concerns at least nine lysosomal hydrolases. When a deficiency has been proved, the presence of mutations known to cause pseudodeficiencies must be searched, above all in Tay-Sachs disease and metachromatic leukodystrophy.
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pubmed:language |
fre
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0035-3787
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
156
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1005-12
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:11119053-Cerebroside-Sulfatase,
pubmed-meshheading:11119053-Diagnosis, Differential,
pubmed-meshheading:11119053-Gene Expression,
pubmed-meshheading:11119053-Humans,
pubmed-meshheading:11119053-Lysosomal Storage Diseases,
pubmed-meshheading:11119053-Point Mutation,
pubmed-meshheading:11119053-beta-N-Acetylhexosaminidases
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pubmed:year |
2000
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pubmed:articleTitle |
[Lysosome enzyme pseudodeficiency].
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pubmed:affiliation |
Service de Neurologie, Hôpital E. Muller, Mulhouse.
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pubmed:publicationType |
Journal Article,
English Abstract,
Review
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