Hypophosphatasia: enzyme replacementtherapy brings new opportunities and new challenges.
Hypophosphatasia CPPD: calcium pyrophosphate deposition Table 2.
Whyte, "
Hypophosphatasia: an overview for 2017," Bone, vol.
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Atypical femoral fractures during bisphosphonate exposure in adult
hypophosphatasia. J Bone Miner Res 2012; 27: 987-94.
Perlman et al., "Infantile
hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts," The Journal of Clinical Endocrinology & Metabolism, vol.
It is indicated for the treatment of perinatal /infantile and juvenile-onset
hypophosphatasia. The animal data suggest low risk but it is doubtful that this drug will be used in pregnancy.
Strensiq was approved by the FDA for perinatal-, infantile- and juvenile-onset
hypophosphatasia (HPP) in 4Q15.
Severe cleidocranial dysplasia and
hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
It is usually found isolated, however, it can be associated with some developmental anomalies such as ectodermal dysplasia,
hypophosphatasia, unilateral facial hypoplasia, neurofibromatosis, and vascular and epidermal nevi.9
The affected individuals had
hypophosphatasia, rather than hyperphosphatasia, (79) being consistent with our proposal that secretion of alkaline phosphatase is dependent upon GPI transamidase.