A Case of Adult Hypophosphatasia with Non-specific Symptoms
Author:
Affiliation:
1. 済生会横浜市東部病院糖尿病・内分泌内科
2. 千葉県こども病院代謝科
3. 済生会横浜市東部病院小児肝臓消化器科
Publisher
The Japan Primary Care Association
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/generalist/45/4/45_126/_pdf
Reference17 articles.
1. 1) Whyte MP. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016; 12: 233-246.
2. 2) Whyte MP, Rockman-Greenberg C, Ozono K, et al. Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia. J Clin Endocrinol Metab. 2016; 101: 334-342.
3. 3) Sutton RA, Mumm S, Coburn SP, et al. "Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res. 2012; 27: 987-994.
4. 4) Dahir KM, Seefried L, Kishnani PS, et al. Clinical profiles of treated and untreated adults with hypophosphatasia in the global HPP registry. Orphanet J Rare Dis. 2022; 17: 277. doi: 10.1186/s13023-022-02393-8.
5. 5) Zhang Z, Nam HK, Crouch S, et al. Tissue nonspecific alkaline phosphatase function in bone and muscle progenitor cells: control of mitochondrial respiration and ATP production. Int J Mol Sci. 2021; 22: 1140. doi: 10.3390/ijms22031140.
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