: enzyme replacementtherapy brings new opportunities and new challenges.
CPPD: calcium pyrophosphate deposition Table 2.
: an overview for 2017," Bone, vol.
- 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.
Balayssac et al., "Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia
using untargeted NMR-based metabolomics analysis," Journal of Neurochemistry, 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.