Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy.

@article{Stephan1989MucopolysaccharidosisIP,
  title={Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy.},
  author={Mark J Stephan and Edward L Stevens and Richard J. Wenstrup and Cheryl Rochman Greenberg and H L Gritter and Geoffrey Hodges and Barbara Guller},
  journal={American journal of diseases of children},
  year={1989},
  volume={143 7},
  pages={782-4}
}
We describe two female infants with Hurler syndrome (mucopolysaccharidosis I) whose deaths are attributed to cardiac failure with associated, autopsy-confirmed endocardial fibroelastosis. One infant had confirmed alpha-L-iduronidase deficiency in cultured dermal fibroblasts, and the other infant had histologic evidence of tissue mucopolysaccharide accumulation at autopsy and a sibling with confirmed alpha-L-iduronidase deficiency and the Hurler syndrome phenotype. Clear cells ("Hurler" cells… CONTINUE READING
9 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-9 of 9 extracted citations

Similar Papers

Loading similar papers…