Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
Author:
Funder
Alexion Pharmaceuticals
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s00198-021-05893-8.pdf
Reference27 articles.
1. Orimo H (2010) The mechanism of mineralization and the role of alkaline phosphatase in health and disease. J Nippon Med Sch 77:1–12. https://doi.org/10.1272/jnms.77.4
2. Harris H (1989) The human alkaline phosphatases: what we know and what we don’t know. Clin Chim Acta 186:133–150. https://doi.org/10.1016/0009-8981(90)90031-m
3. Hofmann C, Girschick HJ, Mentrup B, Graser S, Seefried L, Liese J, Jakob F (2013) Clinical aspect of hypophosphatasia: an update. Clin Rev Bone Miner Metab 1:60–70. https://doi.org/10.1007/s12018-013-9139-0
4. Millán JL (2006) Mammalian alkaline phosphatases: from biology to applications in medicine and biotechnology. Wiley-VCH, Weinheim
5. Fraser D (1957) Hypophosphatasia. Ann J Med 22:730–746. https://doi.org/10.1016/0002-9343(57)90124-9
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1. Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia;Frontiers in Endocrinology;2023-08-01
2. Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase;Calcified Tissue International;2022-11-08
3. Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations;Frontiers in Endocrinology;2022-08-11
4. ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia;The Journal of Clinical Endocrinology & Metabolism;2021-12-22
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