Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?-Reference-Cited by-同舟云学术

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

Published:2021-01-06 Issue:4 Volume:39 Page:598-605
ISSN:0914-8779
Container-title:Journal of Bone and Mineral Metabolism
language:en
Short-container-title:J Bone Miner Metab

Author:

İnci Aslı^ORCID,Ergin Filiz Başak Cengiz,Yüce Burcu Topcu,Çiftçi Bahattin,Demir Ercan,Buyan Necla,Okur İlyas,Biberoğlu Gürsel,Öktem Rıdvan Murat,Tümer Leyla,Ezgü Fatih Süheyl

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,General Medicine,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s00774-020-01193-z.pdf

Reference21 articles.

1. Whyte MP (2013) Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman J, Igarashi T (eds) Genetics of bone biology and skeletal disease. Elsevier (Academic Press), San Diego, pp 337–360

2. Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA 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 USA 85:7666–7669

3. ALPL gene mutations database at http://www.sesep.uvsq.fr/03_hypo_mutations.php. A unique and comprehensive registry of the TNSALP mutations

4. Watanabe A, Satoh S, Fujita A, Naing BT, Orimo H et al (2014) Perinatal hypophosphatasia caused by uniparental isodisomy. Bone 60:93–97

5. Waymire KG, Mahuren JD, Jaje JM, Guilarte TR, Coburn SP et al (1995) Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B6. Nat Genet 11:45–51

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