Whyte MP (2017) Hypophosphatasia: an overview for 2017. Bone 102:15–25

Article  CAS  PubMed  Google Scholar 

Sharma U, Pal D, Prasad R (2014) Alkaline phosphatase: an overview. Indian J Clin Biochem 29(3):269–278

Article  CAS  PubMed  Google Scholar 

Millán JL (2006) Mammalian alkaline phosphatases: from biology to applications in medicine and biotechnology. Wiley

Book  Google Scholar 

Ridefelt P et al (2014) Alkaline phosphatase in healthy children: reference intervals and prevalence of elevated levels. Horm Res Paediatr 82(6):399–404

Article  CAS  PubMed  Google Scholar 

Buyukyilmaz G et al (2024) Benign transient hyperphosphatasemia in the pediatric population: a single center cohort study. J Pediatr Endocrinol Metab 37(7):622–629

Article  CAS  PubMed  Google Scholar 

Narayanan S (1991) Serum alkaline phosphatase isoenzymes as markers of liver disease. Ann Clin Lab Sci 21(1):12–18

CAS  PubMed  Google Scholar 

Riancho JA (2023) Diagnostic approach to patients with low serum alkaline phosphatase. Calcif Tissue Int 112(3):289–296

Article  CAS  PubMed  Google Scholar 

Maman E et al (2016) Absence of recognition of low alkaline phosphatase level in a tertiary care hospital. Osteoporos Int 27(3):1251–1254

Article  CAS  PubMed  Google Scholar 

McKiernan FE, Berg RL, Fuehrer J (2014) Clinical and radiographic findings in adults with persistent hypophosphatasemia. J Bone Miner Res 29(7):1651–1660

Article  CAS  PubMed  Google Scholar 

Napal J et al (1993) Stress decreases the serum level of osteocalcin. Bone Miner 21(2):113–118

Article  CAS  PubMed  Google Scholar 

Kim GS et al (1996) Effects of vitamin B12 on cell proliferation and cellular alkaline phosphatase activity in human bone marrow stromal osteoprogenitor cells and UMR106 osteoblastic cells. Metabolism 45(12):1443–1446

Article  CAS  PubMed  Google Scholar 

Güngör Ş et al (2020) Is it possible to diagnose fulminant Wilson’s disease with simple laboratory tests? Liver Int 40(1):155–162

Article  PubMed  Google Scholar 

Gennero I, Conte-Auriol F, Salles JP (2017) Laboratory diagnosis of hypophosphatasia. Arch Pediatr 24(5s2):5s57-5s60

Article  CAS  PubMed  Google Scholar 

Lum G (1995) Significance of low serum alkaline phosphatase activity in a predominantly adult male population. Clin Chem 41(4):515–518

Article  CAS  PubMed  Google Scholar 

Tournis S et al (2021) Hypophosphatasia. J Clin Med. https://doi.org/10.3390/jcm10235676

Article  PubMed  PubMed Central  Google Scholar 

Whyte MP et al (2018) Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. Bone 110:96–106

Article  CAS  PubMed  Google Scholar 

Mornet E et al (2011) A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 75(3):439–445

Article  PubMed  Google Scholar 

Taketani T et al (2014) Clinical and genetic aspects of hypophosphatasia in Japanese patients. Arch Dis Child 99(3):211–215

Article  PubMed  Google Scholar 

Seefried L et al (2025) Diagnosis and treatment of hypophosphatasia. Calcif Tissue Int 116(1):46

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rush E et al (2024) Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group. Osteoporos Int 35(1):1–10

Article  CAS  PubMed  Google Scholar 

Khan AA et al (2024) Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int 35(3):431–438

Article  CAS  PubMed  Google Scholar 

Demir K et al (2017) A Comprehensive Online Calculator for Pediatric Endocrinologists: ÇEDD Çözüm/TPEDS Metrics. J Clin Res Pediatr Endocrinol 9(2):182–184

Article  PubMed  PubMed Central  Google Scholar 

Estey MP et al (2013) CLSI-based transference of the CALIPER database of pediatric reference intervals from Abbott to Beckman, Ortho, Roche and Siemens clinical chemistry assays: direct validation using reference samples from the CALIPER cohort. Clin Biochem 46(13–14):1197–1219

Article  PubMed  Google Scholar 

Richards S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17(5):405–424

Article  PubMed  PubMed Central  Google Scholar 

McKiernan FE et al (2014) Acute hypophosphatasemia. Osteoporos Int 25(2):519–523

Article  CAS  PubMed  Google Scholar 

Semler O et al (2021) Cross-sectional analysis: clinical presentation of children with persistently low ALP levels. J Pediatr Endocrinol Metab 34(12):1559–1566

Article  CAS  PubMed  Google Scholar 

Deeb A, Elfatih A (2018) Could alerting physicians for low alkaline phosphatase levels be helpful in early diagnosis of hypophosphatasia? J Clin Res Pediatr Endocrinol 10(1):19–24

Article  PubMed  PubMed Central  Google Scholar 

Reis FS, Lazaretti-Castro M (2023) Hypophosphatasia: from birth to adulthood. Arch Endocrinol Metab 67(5):e000626

Article  PubMed  PubMed Central  Google Scholar 

Riancho-Zarrabeitia L et al (2016) Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. Eur J Intern Med 29:40–45

Article  CAS  PubMed  Google Scholar 

McKiernan FE et al (2017) Mutational and biochemical findings in adults with persistent hypophosphatasemia. Osteoporos Int 28(8):2343–2348

Article  CAS  PubMed  Google Scholar 

Hofmann C et al (2013) Clinical aspects of hypophosphatasia: an update. Clin Rev Bone Miner Metab 11:60–70

Article  CAS  Google Scholar 

Högler W et al (2019) Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskelet Disord 20(1):80

Article  PubMed  PubMed Central  Google Scholar 

Vogt M et al (2020) Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children. Orphanet J Rare Dis 15(1):212

Article  PubMed  PubMed Central  Google Scholar 

Liu M et al (2021) Clinical and genetic characteristics of hypophosphatasia in Chinese children. Orphanet J Rare Dis 16(1):159