Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I.
J Clin Pathol. 2021 Oct;74(10):635-640. doi: 10.1136/jclinpath-2021-207426. Epub 2021 Apr 30.
Hypophosphatasia.
Mornet E.
Orphanet J Rare Dis. 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40.
Hypophosphatasia.
Dahir KM, Nunes ME.
2007 Nov 20 [updated 2025 Mar 27]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Genetics of hypophosphatasia.
Mornet E.
Arch Pediatr. 2017 May;24(5S2):5S51-5S56. doi: 10.1016/S0929-693X(18)30014-9.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E.
Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27.
Alkaline Phosphatase Replacement Therapy.
Bianchi ML, Vai S.
Adv Exp Med Biol. 2019;1148:201-232. doi: 10.1007/978-981-13-7709-9_10.
Benign prenatal hypophosphatasia: a treatable disease not to be missed.
Matsushita M, Kitoh H, Michigami T, Tachikawa K, Ishiguro N.
Pediatr Radiol. 2014 Mar;44(3):340-3. doi: 10.1007/s00247-013-2805-z. Epub 2013 Oct 22.
Femoral lengthening with enzyme replacement therapy in an adolescent patient with prenatal benign hypophosphatasia: A case report.
Kitoh H, Kaneko H, Kitamura A, Sawamura K.
J Orthop Sci. 2023 Nov;28(6):1487-1491. doi: 10.1016/j.jos.2021.07.010. Epub 2021 Aug 12.
Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia.
Ishijima Y, Iizuka T, Kagami K, Masumoto S, Nakade K, Mitani Y, Niida Y, Watanabe A, Yamazaki R, Ono M, Fujiwara H.
J Obstet Gynaecol. 2020 Jan;40(1):132-134. doi: 10.1080/01443615.2019.1606177. Epub 2019 Jul 23.
Radiological evaluation of pseudofracture after the administration of asfotase alfa in an adult with benign prenatal hypophosphatasia: A case report.
Kato H, Hidaka N, Koga M, Kinoshita Y, Makita N, Nangaku M, Ito N.
Bone Rep. 2021 Dec 29;16:101163. doi: 10.1016/j.bonr.2021.101163. eCollection 2022 Jun.
