The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance-Reference-Cited by-同舟云学术

The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance

Published:2023-11-20 Issue: Volume: Page:
ISSN:0937-941X
Container-title:Osteoporosis International
language:en
Short-container-title:Osteoporos Int

Author:

Brandi Maria Luisa^ORCID,Khan Aliya A.^ORCID,Rush Eric T.^ORCID,Ali Dalal S.^ORCID,Al-Alwani Hatim^ORCID,Almonaei Khulod^ORCID,Alsarraf Farah^ORCID,Bacrot Severine^ORCID,Dahir Kathryn M.^ORCID,Dandurand Karel^ORCID,Deal Chad^ORCID,Ferrari Serge Livio^ORCID,Giusti Francesca^ORCID,Guyatt Gordon^ORCID,Hatcher Erin^ORCID,Ing Steven W.^ORCID,Javaid Muhammad Kassim^ORCID,Khan Sarah^ORCID,Kocijan Roland^ORCID,Lewiecki E. Michael^ORCID,Linglart Agnes^ORCID,M’Hiri Iman^ORCID,Marini Francesca^ORCID,Nunes Mark E.^ORCID,Rockman-Greenberg Cheryl^ORCID,Seefried Lothar^ORCID,Simmons Jill H.^ORCID,Starling Susan R.^ORCID,Ward Leanne M.^ORCID,Yao Liang^ORCID,Brignardello-Petersen Romina^ORCID,Roux Christian^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s00198-023-06859-8.pdf

Reference21 articles.

1. Milan JL, White MP (2016) Alkaline phosphatase and hypophosphatasia. Osteoporos Int 28(8):2343–2348

2. Whyte MP (2017) Hypophosphatasia: an overview for 2017. Bone 102:15–25

3. Jandl NM, Schmidt T, Rolvien T, Stürznickel J, Chrysostomou K, von Vopelius E, Volk AE, Schinke T, Kubisch C, Amling M, Barvencik F (2021) Genotype-phenotype associations in 72 adults with suspected ALPL-associated hypophosphatasia. Calcif Tissue Int 108(3):288–301

4. Mornet E, Taillandier A, Domingues C, Dufour A, Benaloun E, Lavaud N, Wallon F, Rousseau N, Charle C, Guberto M, Muti C, Simon-Bouy B (2021) Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation. Eur J Hum Genet 29(2):289–299

5. McKiernan FE, Dong J, Berg RL, Scotty E, Mundt P, Larson L, Rai I (2017) Mutational and biochemical findings in adults with persistent hypophosphatasemia. Osteoporos Int 28(8):2343–2348

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