Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations-Reference-Cited by-同舟云学术

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Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations

Published:2018-08-16 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Daniel Anjali B.,Saraff Vrinda,Shaw Nick J.,Yates Robert,Mughal M. Zulf,Padidela Raja

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0869-4.pdf

Reference45 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;85:7666–9.

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

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

4. Fraser D. Hypophosphatasia. Am J Med. 1957;22:730–46.

5. Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75:439–45.

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1. Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review;Bone;2024-11

2. Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up;Hormone Research in Paediatrics;2024-08-05

3. The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces;Diagnostics;2022-03-30

4. A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia;Orphanet Journal of Rare Diseases;2022-02-23

5. Hypophosphatasia;Journal of Clinical Medicine;2021-12-01

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