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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1979-5-23
|
| pubmed:abstractText |
The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroid-lipofuscinoses, a heterogeneous group of diseases in which lysosomal storage is thought to be a secondary event. In animals, there occurs a group of toxic storage diseases whose pathology mimics that of some of the genetic diseases. In humans some element of control may be achieved by heterozygote detection programmes and/or prenatal diagnosis of pregnancies at risk with elective abortion of an affected foetus. The outlook for specific therapy is not encouraging at this stage.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0305-1846
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
4
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
419-27
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:745675-Enzymes,
pubmed-meshheading:745675-Female,
pubmed-meshheading:745675-Humans,
pubmed-meshheading:745675-Lysosomes,
pubmed-meshheading:745675-Male,
pubmed-meshheading:745675-Metabolism, Inborn Errors,
pubmed-meshheading:745675-Microscopy, Electron,
pubmed-meshheading:745675-Pregnancy
|
| pubmed:articleTitle |
Lysosomal storage diseases.
|
| pubmed:publicationType |
Journal Article
|