Predictive modeling of hypophosphatasia based on a case series of adult patients with persistent hypophosphatasemia.
Rafael García CarreteroM Olid-VelillaD Perez-TorrellaN Torres-PachoM-T Darnaude-OrtizA-D Bustamate-ZuloetaJair Antonio Tenorio CastañoPublished in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2021)
Given the high probability of a misdiagnosis, its nonspecific symptoms, and a lack of awareness of serum ALP levels, it is difficult to make a clinical diagnosis of HPP. Predictive models based on biomarkers are necessary to achieve a proper diagnosis. Our proposed machine learning approaches achieved reasonable performance compared to traditional statistical methods used in biomedicine, increasing the likelihood of properly diagnosing such a rare disease as HPP.