Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys.

@article{Weber2016BurdenOD,
  title={Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys.},
  author={Thomas J. Weber and Eileen K Sawyer and Scott Moseley and Tatjana Odrljin and Priya Kishnani},
  journal={Metabolism: clinical and experimental},
  year={2016},
  volume={65 10},
  pages={
          1522-30
        }
}
BACKGROUND Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline (TNSALP) phosphatase gene, which manifests as rickets and/or osteomalacia with systemic complications and affects patients of all ages. The burden of disease is poorly characterized in adult patients. AIMS We assessed patient-reported burden of disease using two surveys reasonably specific for HPP symptomatology, the Hypophosphatasia Impact Patient… CONTINUE READING
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