Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
Pt 2
|
pubmed:dateCreated |
1990-1-24
|
pubmed:abstractText |
The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal alpha-glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral alpha-glucosidases. We have therefore analysed the activity of the major neutral alpha-glucosidases in cultured fibroblasts or muscle cells from 26 patients with glycogenosis type II. The results indicate that there is no correlation between the expression of neutral alpha-glucosidase isoenzymes and the clinical phenotype of this disease.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
May
|
pubmed:issn |
0003-4800
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
53
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
185-92
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:2688540-Cells, Cultured,
pubmed-meshheading:2688540-Electrophoresis, Cellulose Acetate,
pubmed-meshheading:2688540-Electrophoresis, Starch Gel,
pubmed-meshheading:2688540-Fibroblasts,
pubmed-meshheading:2688540-Glycogen Storage Disease Type II,
pubmed-meshheading:2688540-Humans,
pubmed-meshheading:2688540-Lysosomes,
pubmed-meshheading:2688540-Muscles,
pubmed-meshheading:2688540-Phenotype,
pubmed-meshheading:2688540-alpha-Glucosidases
|
pubmed:year |
1989
|
pubmed:articleTitle |
An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II.
|
pubmed:affiliation |
Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|