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- W2412945908 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. We describe the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this rare disease and discuss the pathogenesis." @default.
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- W2412945908 date "2006-10-01" @default.
- W2412945908 modified "2023-09-23" @default.
- W2412945908 title "Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2." @default.
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