1. OAR@UM
  2. External Research Collection
  3. Medicine
  4. Paediatrics
  5. Images in Paediatric Cardiology
  6. 2006
  7. IPC, Volume 8, Issue 4
Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/4081
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dc.contributor.authorMueller, Peter-
dc.contributor.authorMoeckel, A.-
dc.contributor.authorDaehnert, I.-
dc.date.accessioned2015-07-15T05:43:37Z-
dc.date.available2015-07-15T05:43:37Z-
dc.date.issued2006-
dc.identifier.citationImages in Paediatric Cardiology. 2006, Vol.8(4), p. 1-6en_GB
dc.identifier.urihttps://www.um.edu.mt/library/oar//handle/123456789/4081-
dc.description.abstractA 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.en_GB
dc.language.isoenen_GB
dc.publisherImages in Paediatric Cardiologyen_GB
dc.rightsinfo:eu-repo/semantics/openAccessen_GB
dc.subjectMucolipidosesen_GB
dc.subjectCardiomyopathy, Dilateden_GB
dc.subjectPediatricsen_GB
dc.titleSevere dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2en_GB
dc.typearticleen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.description.reviewedpeer-revieweden_GB
Appears in Collections:IPC, Volume 8, Issue 4
IPC, Volume 8, Issue 4

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