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Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2

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. We describe t...

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Detalles Bibliográficos
Autores principales:	Mueller, P, Moeckel, A, Daehnert, I
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2006
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232566/ https://www.ncbi.nlm.nih.gov/pubmed/22368665

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