Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview-Reference-Cited by-同舟云学术

Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview

Published:2019-08-16 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Rush Eric T.^ORCID,Moseley Scott,Petryk Anna

Funder

Alexion Pharmaceuticals, Inc

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1167-5.pdf

Reference23 articles.

1. Whyte MP. Hypophosphatasia – aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12:233–46.

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

3. Whyte MP. Hypophosphatasia. In: Thakker RV, Eisman J, Igarashi T, editors. Genetics of bone biology and skeletal disease. Amsterdam: Elsevier/Academic Press; 2013. p. 337–60.

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

5. Nunes ML, Mugnol F, Bica I, Fiori RM. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol. 2002;17:222–4.

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