|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
2000-7-27
|
|
pubmed:abstractText |
We report a case of symptomatic heterozygous female Fabry's disease with low alpha-galactosidase blood activity. We could not find any mutations in the coding regions of either the signal peptide or the enzyme subunit in our case.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1018-8665
|
|
pubmed:author |
|
|
pubmed:copyrightInfo |
Copyright 2000 S. Karger AG, Basel.
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
200
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
262-5
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
|
|
pubmed:year |
2000
|
|
pubmed:articleTitle |
A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.
|
|
pubmed:affiliation |
Department of Dermatology, Nagoya University School of Medicine, Nagoya, Japan.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
