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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1993-12-2
|
| pubmed:abstractText |
We describe here a male infant with a rare form of glycogenosis caused by deficiency of heart specific phosphorylase b kinase. The disease phenotype was characterized by severe glycogenosis restricted to the heart muscle with secondary rapidly progressive hypertrophic cardiomyopathy causing death at the age of 47 days.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0174-7398
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
423
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
303-7
|
| pubmed:dateRevised |
2007-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:8236826-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:8236826-Fatal Outcome,
pubmed-meshheading:8236826-Glycogen Storage Disease,
pubmed-meshheading:8236826-Humans,
pubmed-meshheading:8236826-Infant,
pubmed-meshheading:8236826-Male,
pubmed-meshheading:8236826-Microscopy, Electron,
pubmed-meshheading:8236826-Phosphorylase Kinase
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.
|
| pubmed:affiliation |
1st Institute of Pathology, School of Medicine I, Charles University, Prague, Czech Republic.
|
| pubmed:publicationType |
Journal Article,
Review,
Case Reports
|