Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Orthopedics and Sports Medicine,General Medicine,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s00774-023-01440-z.pdf
Reference40 articles.
1. Millán JL, Whyte MP (2016) Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int 98:398. https://doi.org/10.1007/S00223-015-0079-1
2. Whyte MP (2016) Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 12:233–246. https://doi.org/10.1038/nrendo.2016.14
3. Mornet E (2013) Genetics of hypophosphatasia. Clin Rev Bone Miner Metab 11:71–77. https://doi.org/10.1007/s12018-013-9140-7
4. Mornet E, Taillandier A, Peyramaure S et al (1998) Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 6:308–314. https://doi.org/10.1038/sj.ejhg.5200190
5. Mornet E (2015) Molecular genetics of hypophosphatasia and phenotype-genotype correlations. Subcell Biochem 76:25–43. https://doi.org/10.1007/978-94-017-7197-9_2
Cited by 2 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. Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications;Journal of Clinical Medicine;2024-04-13
2. Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia;Osteoporosis and Sarcopenia;2023-12
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