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Hypophosphatasia and the risk of atypical femur fractures: A case-control study

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Case reports have linked adult hypophosphatasia as a possible cause of atypical femur fractures (AFF) associated with bisphosphonate use. Adult hypophosphatasia is an asymptomatic genetic condition which results in low alkaline phosphatase and elevated pyridoxal phosphate. |

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Adult-onset hypophosphatasia: Before and after treatment with Asfotase alfa

Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: A case report

Hypophosphatasia and the risk of atypical femur fractures: A case-control study

Báo cáo khoa học: Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406 Structural importance of the crown domain

Báo cáo khoa học: Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433 fi Cys substitution associated with severe hypophosphatasia

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: Case reports and literature review

Diagnostic delay is common among patients with hypophosphatasia: Initial findings from a longitudinal, prospective, global registry