Linked Life Data

1822791

Source:http://linkedlifedata.com/resource/pubmed/id/1822791

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1992-9-10
pubmed:abstractText
A 54-yr-old woman who presented with chest pain and elevated serum creatine kinase levels was found to have type III glycogen storage disease. Except for a history of hepatomegaly in childhood, she was healthy and lived a normal life. There was no hypoglycemia, seizure disorder or growth retardation. Muscle weakness was not apparent until the sixth decade. Despite the mild clinical course, debranching enzyme activity was not detectable by biochemical assay, and immunoblot analysis using a polyclonal antibody showed a complete absence of debrancher protein. Thus, mild clinical manifestations in this patient could not be explained by the residual debrancher enzyme and/or activity.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
173-6
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.
pubmed:affiliation
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't