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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 Calmarza,Carlos Lapresta,María Martínez García, José Ochoa,Paula Sienes Bailo,Javier Acha Pérez, Jesús Beltrán Audera,Eva González-Roca

JOURNAL OF BONE AND MINERAL METABOLISM（2023）

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关键词
Hypophosphatasia,Musculoskeletal pain,Muscular weakness,Pyridoxal 5´phosphate,ALPL mutations
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