Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children

[1] Rathbun JC(1948)Hypophosphatasia; a new developmental anomaly Am J Dis Child 75 822-831

[2] Whyte MP(1985)Markedly increased circulating pyridoxal-5′-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism J Clin Invest 76 752-756

[3] Mahuren JD(2009)How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? Rheumatol Int 29 229-238

[4] Vrabel LA(1988)Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5′-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase J Clin Invest 81 1234-1239

[5] Coburn SP(1957)Hypophosphatasia Am J Med 22 730-746

[6] Beck C(2011)A molecular-based estimation of the prevalence of hypophosphatasia in the European population Ann Hum Genet 75 439-445

[7] Morbach H(2013)Hypophosphatasia Pediatr Endocrinol Rev 10 380-388

[8] Richl P(2016)Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment Nat Rev Endocrinol 12 233-246

[9] Stenzel M(2015)Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients Bone. 75 229-239

[10] Girschick HJ(2011)Dose response of bone-targeted enzyme replacement for murine hypophosphatasia Bone. 49 250-256

[1] Rathbun JC(1948)Hypophosphatasia; a new developmental anomaly Am J Dis Child 75 822-831

[2] Whyte MP(1985)Markedly increased circulating pyridoxal-5′-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism J Clin Invest 76 752-756

[3] Mahuren JD(2009)How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? Rheumatol Int 29 229-238

[4] Vrabel LA(1988)Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5′-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase J Clin Invest 81 1234-1239

[5] Coburn SP(1957)Hypophosphatasia Am J Med 22 730-746

[6] Beck C(2011)A molecular-based estimation of the prevalence of hypophosphatasia in the European population Ann Hum Genet 75 439-445

[7] Morbach H(2013)Hypophosphatasia Pediatr Endocrinol Rev 10 380-388

[8] Richl P(2016)Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment Nat Rev Endocrinol 12 233-246

[9] Stenzel M(2015)Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients Bone. 75 229-239

[10] Girschick HJ(2011)Dose response of bone-targeted enzyme replacement for murine hypophosphatasia Bone. 49 250-256