Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients

Author:

Michigami Toshimi,Tachikawa Kanako,Yamazaki Miwa,Kawai Masanobu,Kubota Takuo,Ozono Keiichi

Funder

Ministry of Health, Labour and Welfare

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference36 articles.

1. Whyte MP (2016) Hypophosphatasia—aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 12:233–246

2. Mornet E (2007) Hypophosphatasia. Orphanet J Rare Dis 2:40

3. Mornet E, Nunes ME (2007) Hypophosphatasia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews®. University of Washington, Seattle

4. Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, Hersh JH, Mumm S, Whyte MP (2011) Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). J Bone Miner Res 26:2389–2398

5. Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, Satomura K, Yasui N, Okada S, Nakayama M (1996) Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 81:4458–4461

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