Hypophosphatasia is a heterogeneous disease and the various forms of the disease can vary a great deal in severity. Mortality is high for the most severe forms in children with symptoms already at the foetal stage and before the age of 6 months. Individuals with the least severe form of hypophosphatasia may not be diagnosed until they reach adulthood.
Leung EC et al. JIMD Rep 2013; 11: 73-78.
Mornet E. Best Pract Res Clin Rheum 2008; 22: 113-127.
Mornet E et al. Ann Hum Genet 2011; 75: 439-445.
Rockman-Greenberg C. Ped Endocrinol Rev 2013; 10 (Suppl 2): 380-388.
Whyte MP. Ann N Y Acad Sci 2010; 1192: 190-200.
Mornet E. Best Pract Res Clin Rheum 2008; 22: 113-127.
Mornet E et al. Ann Hum Genet 2011; 75: 439-445.
Rockman-Greenberg C. Ped Endocrinol Rev 2013; 10 (Suppl 2): 380-388.
Whyte MP. Ann N Y Acad Sci 2010; 1192: 190-200.