Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/4081| Title: | Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2 |
| Authors: | Mueller, Peter Moeckel, A. Daehnert, I. |
| Keywords: | Mucolipidoses Cardiomyopathy, Dilated Pediatrics |
| Issue Date: | 2006 |
| Publisher: | Images in Paediatric Cardiology |
| Citation: | Images in Paediatric Cardiology. 2006, Vol.8(4), p. 1-6 |
| Abstract: | A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. This article describes the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this rare disease and discusses the pathogenesis. |
| URI: | https://www.um.edu.mt/library/oar//handle/123456789/4081 |
| Appears in Collections: | IPC, Volume 8, Issue 4 IPC, Volume 8, Issue 4 |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Severe dilated cardiomyopathy as an unusual finding in a young infant with.pdf | 572.02 kB | Adobe PDF | View/Open |
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.