Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

@inproceedings{Pinto2010ExpressionOT,
  title={Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review},
  author={Louise L C Pinto and Taiane Alves Vieira and Roberto Giugliani and Ida Vanessa D. Schwartz},
  booktitle={Orphanet journal of rare diseases},
  year={2010}
}
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II… CONTINUE READING