Abstract
Pyrophosphate (PPi) acts as a potent inhibitor of mineralization. Patients deficient in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a protein involved in PPi metabolism, have low serum PPi and heterogeneous clinical manifestations, including arterial calcification; cardiac, neurological, and gastrointestinal (GI) dysfunction; skeletal abnormalities; and hearing loss. This study was intended to characterize the burden of disease from a patient or caregiver/parent perspective.
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