The management and treatment of children with Fabry disease: A United States-based perspective.

@article{Hopkin2016TheMA,
  title={The management and treatment of children with Fabry disease: A United States-based perspective.},
  author={Robert J Hopkin and John Lynn Jefferies and Dawn A. Laney and Victoria H. Lawson and Michael Mauer and Matthew R G Taylor and William R Wilcox},
  journal={Molecular genetics and metabolism},
  year={2016},
  volume={117 2},
  pages={
          104-13
        }
}
  • Robert J Hopkin, John Lynn Jefferies, +4 authors William R Wilcox
  • Published in
    Molecular genetics and…
    2016
  • Medicine
  • Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescence or adulthood. In the pediatric population, renal damage is typically subclinical and identifiable only through biopsy. Specialists from the United States with expertise in Fabry disease convened… CONTINUE READING

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