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Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging
BACKGROUND: Glycogen storage disease type IV (GSD IV; Andersen’s disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable invol...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Eur Heart J Case Rep |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7319828/ https://ncbi.nlm.nih.gov/pubmed/32617483 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ehjcr/ytaa078 |
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