Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives
Author:
Funder
University of Sheffield
Publisher
Springer Science and Business Media LLC
Subject
Radiology Nuclear Medicine and imaging,Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/article/10.1007/s00247-018-4239-0/fulltext.html
Reference94 articles.
1. Weiss MJ, Cole DE, Ray K et al (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A 85:7666–7669
2. Whyte MP (2018) Hypophosphatasia and how alkaline phosphatase promotes mineralization. In: Thakker RV, Whyte MP, Eisman J, Igarashi T (eds) Genetics of bone biology and skeletal disease, 2nd edn. Elsevier (Academic Press, London), San Diego, CA, pp 481–504
3. Rockman-Greenberg C (2013) Hypophosphatasia. Pediatr Endocrinol Rev 10(Suppl 2):380–388
4. Whyte MP, Mahuren JD, Vrabel LA, Coburn SP (1985) Markedly increased circulating pyridoxal-5′-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest 76:752–756
5. Russell RG (1965) Excretion of inorganic pyrophosphate in hypophosphatasia. Lancet 2:461–464
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