L’ipofosfatasia: patogenesi, espressione clinica e terapia nelle varie età della vita
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Earth and Planetary Sciences,General Environmental Science
Link
https://link.springer.com/content/pdf/10.1007/s40619-020-00747-7.pdf
Reference20 articles.
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2. Mornet E, Yvard A, Taillandier A et al. (2011) A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet 75:439–445
3. Rush ET (2018) Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis 13:116
4. Hasegawa T, Yamamoto T, Tsuchiya E et al. (2017) Ultrastructural and biochemical aspects of matrix vesicle-mediated mineralization. Jpn Dent Sci Rev 53:34–45
5. Ito M, Amizuka N, Ozawa H et al. (2002) Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153–>Asp substitution, a cause of perinatal hypophosphatasia. Biochem J 361(Pt 3):473–480
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