Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry-Reference-Cited by-同舟云学术

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

Published:2019-02-14 Issue:1 Volume:20 Page:
ISSN:1471-2474
Container-title:BMC Musculoskeletal Disorders
language:en
Short-container-title:BMC Musculoskelet Disord

Author:

Högler Wolfgang,Langman Craig,Gomes da Silva Hugo,Fang Shona,Linglart Agnès,Ozono Keiichi,Petryk Anna,Rockman-Greenberg Cheryl,Seefried Lothar,Kishnani Priya S.

Funder

Alexion Pharmaceuticals, Inc.

Publisher

Springer Science and Business Media LLC

Subject

Orthopedics and Sports Medicine,Rheumatology

Link

http://link.springer.com/content/pdf/10.1186/s12891-019-2420-8.pdf

Reference40 articles.

1. Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, et al. 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. 1988;85(20):7666–9.

2. Whyte MP. Hypophosphatasia and how alkaline phosphatase promotes mineralization. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, editors. Genetics of bone biology and skeletal disease. 2nd ed. San Diego, CA: Elsevier (Academic Press); 2018. p. 481–504.

3. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(Suppl 2):380–8.

4. Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, et al. Genetic analysis of adults heterozygous for ALPL mutations. J Bone Miner Metab. 2018;36(6):723–33.

5. Russell RG. Excretion of inorganic pyrophosphate in hypophosphatasia. Lancet. 1965;2(7410):461–4.

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