Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings

@article{Tondeur1982InfantileFO,
  title={Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings},
  author={Marianne C Tondeur and Jacques Libert and Esther Vamos and François van Hoof and George H. Thomas and G{\'e}rard Strecker},
  journal={European Journal of Pediatrics},
  year={1982},
  volume={139},
  pages={142-147}
}
We describe two sibs with coarse facies, hepatosplenomegaly, prominent psychomotor retardation and unexpectedly fair complexion. Ultrastructural studies of conjunctival, skin, bone marrow and liver biopsies from these individuals showed generalized lysosomal storage of polysaccharidelike material, i.e., membrane bound inclusions containing sparse, fibrillo-granular material. Biochemical analyses of urine and cultured fibroblasts from these patients revealed increased levels of free (unbound… CONTINUE READING

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