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prenatal benign hypophosphatasia 相关文献:
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.
PMID:33931563
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.
PMID:24145968
Hypophosphatasia.
Nunes ME.
2007 Nov 20 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301329
Hypophosphatasia.
Mornet E.
Orphanet J Rare Dis. 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40.
PMID:17916236
Genetics of hypophosphatasia.
Mornet E.
Arch Pediatr. 2017 May;24(5S2):5S51-5S56. doi: 10.1016/S0929-693X(18)30014-9.
PMID:29405932
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.
PMID:31482501
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.
PMID:33549410
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.
PMID:31335231
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.
PMID:35024386
Hypophosphatasia: an overview of the disease and its treatment.
Bianchi ML.
Osteoporos Int. 2015 Dec;26(12):2743-57. doi: 10.1007/s00198-015-3272-1. Epub 2015 Aug 6.
PMID:26245849
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