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Items: 1 to 20 of 86

1.

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. 2019 Jul 23:1-3. doi: 10.1080/01443615.2019.1606177. [Epub ahead of print] No abstract available.

PMID:
31335231
2.

Hypophosphatasia.

Mornet E.

Orphanet J Rare Dis. 2007 Oct 4;2:40. Review.

3.

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. Review.

PMID:
26245849
4.

Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.

Watanabe A, Yamamasu S, Shinagawa T, Suzuki Y, Miyake H, Takeshita T, Orimo H, Shimada T.

J Nippon Med Sch. 2007 Feb;74(1):65-9.

5.

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
6.

[Enzyme replacement therapy for hypophosphatasia].

Ozono K.

Clin Calcium. 2014 Feb;24(2):257-63. doi: CliCa1402257263. Review. Japanese.

PMID:
24473359
7.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, Laivuori H, Le Merrer M, Mehta S, Jern C, Sharif S, Prieur F, Gillessen-Kaesbach G, Zankl A, Mornet E.

Prenat Diagn. 2008 Nov;28(11):993-8. doi: 10.1002/pd.2088.

PMID:
18925618
8.

A Newborn with No Bones: Neonatal Hypophosphatasia with Respiratory Distress.

Sheikh Z, Ali S, Hussain A, Mohan S, Thyagarajan M.

J Pediatr. 2017 Sep;188:306. doi: 10.1016/j.jpeds.2017.05.060. Epub 2017 Jun 26. No abstract available.

PMID:
28662950
9.

Childhood hypophosphatasia: to treat or not to treat.

Rush ET.

Orphanet J Rare Dis. 2018 Jul 16;13(1):116. doi: 10.1186/s13023-018-0866-7. Review.

10.

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.

Whyte MP.

Nat Rev Endocrinol. 2016 Apr;12(4):233-46. doi: 10.1038/nrendo.2016.14. Epub 2016 Feb 19. Review.

PMID:
26893260
11.

Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images.

Sinico M, Levaillant JM, Vergnaud A, Blondeau JR, Encha-Razavi F, Mornet E, Le Merrer M, Gerard-Blanluet M.

Prenat Diagn. 2007 Mar;27(3):222-7.

PMID:
17238218
12.

[Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options].

Martos-Moreno GA, Calzada J, Couce ML, Argente J.

An Pediatr (Barc). 2018 Jun;88(6):356.e1-356.e11. doi: 10.1016/j.anpedi.2017.06.004. Epub 2017 Jul 16. Review. Spanish.

13.

Prenatal diagnosis of hypophosphatasia.

Kousseff BG, Mulivor RA.

Obstet Gynecol. 1981 Jun;57(6 Suppl):9S-12S.

PMID:
7243133
14.

Early prenatal sonographic diagnosis of congenital hypophosphatasia.

Tongsong T, Pongsatha S.

Ultrasound Obstet Gynecol. 2000 Mar;15(3):252-5.

15.

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, Van Sickle BJ, Simmons JH, Edgar TS, Bauer ML, Hamdan MA, Bishop N, Lutz RE, McGinn M, Craig S, Moore JN, Taylor JW, Cleveland RH, Cranley WR, Lim R, Thacher TD, Mayhew JE, Downs M, Millán JL, Skrinar AM, Crine P, Landy H.

N Engl J Med. 2012 Mar 8;366(10):904-13. doi: 10.1056/NEJMoa1106173.

16.

Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series.

Kosnik-Infinger L, Gendron C, Gordon CB, Pan BS, van Aalst JA, Vogel TW.

Neurosurg Focus. 2015 May;38(5):E10. doi: 10.3171/2015.2.FOCUS14847.

PMID:
25929963
17.
18.

Hypophosphatasia.

Mornet E.

Metabolism. 2018 May;82:142-155. doi: 10.1016/j.metabol.2017.08.013. Epub 2017 Sep 20. Review.

PMID:
28939177
19.

Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.

Okazaki Y, Kitajima H, Mochizuki N, Kitaoka T, Michigami T, Ozono K.

Eur J Pediatr. 2016 Mar;175(3):433-7. doi: 10.1007/s00431-015-2641-2. Epub 2015 Oct 12.

PMID:
26459154
20.

[Hypophosphatasia: new therapeutic approaches].

Alonso G, Varsavsky M, Muñoz-Torres M.

Med Clin (Barc). 2009 Jan 31;132(3):108-11. doi: 10.1016/j.medcli.2008.09.010. Epub 2009 Jan 24. Review. Spanish.

PMID:
19211064

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