Proposing a clinical algorithm for better diagnosis of hypophosphatasia in resource-limiting situations
Author:
Funder
Central Drug Research Institute
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s00198-022-06480-1.pdf
Reference55 articles.
1. Azpiazu D, Gonzalo S, Villa-Bellosta R (2019) Tissue non-specific alkaline phosphatase and vascular calcification: a potential therapeutic target. Curr Cardiol Rev 15:91–95. https://doi.org/10.2174/1573403X14666181031141226
2. Weiss MJ, Cole DEC, 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. https://doi.org/10.1073/PNAS.85.20.7666
3. Table of mutations - ALPL. https://alplmutationdatabase.jku.at/table/. Accessed 25 Nov 2021.
4. Mornet E, Taillandier A, Domingues C et al (2021) Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation. Eur J Hum Genet 29:289–299. https://doi.org/10.1038/S41431-020-00732-6
5. Whyte MP, Zhang F, Wenkert D et al (2015) Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone 75:229–239. https://doi.org/10.1016/J.BONE.2015.02.022
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