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Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.

Pilar CalmarzaCarlos LaprestaMaría Martínez GarcíaJosé OchoaPaula Sienes BailoJavier Acha PérezJesús Beltrán AuderaEva Gonzalez-Roca
Published in: Journal of bone and mineral metabolism (2023)
Mild HPP patients presenting with diffuse symptoms such as musculoskeletal pain may be undiagnosed or misdiagnosed as osteoporosis patients by routine diagnosis. It is important to identify these individuals, to avoid inappropriate treatment with antiresorptive drugs.
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