Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark-Reference-Cited by-同舟云学术

Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark

Published:2021-12 Issue: Volume:15 Page:101101
ISSN:2352-1872
Container-title:Bone Reports
language:en
Short-container-title:Bone Reports

Author:

Hepp Nicola,Frederiksen Anja Lisbeth,Duno Morten,Præst Holm Jakob,Rye Jørgensen Niklas,Beck Jensen Jens-Erik

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference38 articles.

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3. Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate;Coburn;J. Clin. Endocrinol. Metab.,1998

4. Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia;del Angel;Hum. Mutat.,2020

5. Epidemiological, clinical and genetic study of hypophosphatasia in a Spanish population: identification of two novel mutations in the Alpl gene;García-Fontana;Sci. Rep.,2019

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years;RMD Open;2024-04

2. Identifying adult hypophosphatasia in the rheumatology unit;Orphanet Journal of Rare Diseases;2022-12-14

3. A low serum alkaline phosphatase may signal hypophosphatasia in osteoporosis clinic patients;Osteoporosis International;2022-11-24

4. Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study;Osteoporosis International;2022-08-19

5. Perspective on Dentoalveolar Manifestations Resulting From PHOSPHO1 Loss-of-Function: A Form of Pseudohypophosphatasia?;Frontiers in Dental Medicine;2022-02-03