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Journal Abstract Search

450 related items for PubMed ID: 17916236

  • 1. Hypophosphatasia.
    Mornet E.
    Orphanet J Rare Dis; 2007 Oct 04; 2():40. PubMed ID: 17916236
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Nunes ME.
    ; 1993 Oct 04. PubMed ID: 20301329
    [Abstract] [Full Text] [Related]

  • 3. Hypophosphatasia.
    Mornet E.
    Best Pract Res Clin Rheumatol; 2008 Mar 04; 22(1):113-27. PubMed ID: 18328985
    [Abstract] [Full Text] [Related]

  • 4. [Congenital hypophosphatasia].
    Terheggen HG, Wischermann A.
    Monatsschr Kinderheilkd; 1984 Jul 04; 132(7):512-22. PubMed ID: 6147751
    [Abstract] [Full Text] [Related]

  • 5. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
    Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P.
    Am J Med Genet A; 2017 Mar 04; 173(3):601-610. PubMed ID: 28127875
    [Abstract] [Full Text] [Related]

  • 6. Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
    Mao X, Liu S, Lin Y, Chen Z, Shao Y, Yu Q, Liu H, Lu Z, Sheng H, Lu X, Huang Y, Liu L, Zeng C.
    BMC Pediatr; 2019 Nov 25; 19(1):456. PubMed ID: 31760938
    [Abstract] [Full Text] [Related]

  • 7. 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 25; 132(3):198-203. PubMed ID: 33549410
    [Abstract] [Full Text] [Related]

  • 8. [Childhood hypophosphatasia].
    Mulder AL, van den Bos SN, Gerrits GP, Theunissen PM.
    Ned Tijdschr Geneeskd; 1997 Jul 05; 141(27):1345-8. PubMed ID: 9380189
    [Abstract] [Full Text] [Related]

  • 9. Clinical Forms and Animal Models of Hypophosphatasia.
    Salles JP.
    Subcell Biochem; 2015 Jul 05; 76():3-24. PubMed ID: 26219704
    [Abstract] [Full Text] [Related]

  • 10. Hypophosphatasia.
    Fenn JS, Lorde N, Ward JM, Borovickova I.
    J Clin Pathol; 2021 Oct 05; 74(10):635-640. PubMed ID: 33931563
    [Abstract] [Full Text] [Related]

  • 11. Hypophosphatasia: an overview of the disease and its treatment.
    Bianchi ML.
    Osteoporos Int; 2015 Dec 05; 26(12):2743-57. PubMed ID: 26245849
    [Abstract] [Full Text] [Related]

  • 12. Treatment of hypophosphatasia.
    Simon S, Resch H.
    Wien Med Wochenschr; 2020 Apr 05; 170(5-6):112-115. PubMed ID: 32072352
    [Abstract] [Full Text] [Related]

  • 13. [Genetics of hypophosphatasia].
    Mornet E, Simon-Bouy B.
    Arch Pediatr; 2004 May 05; 11(5):444-8. PubMed ID: 15135429
    [Abstract] [Full Text] [Related]

  • 14. Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.
    Haliloglu B, Guran T, Atay Z, Abali S, Mornet E, Bereket A, Turan S.
    Eur J Pediatr; 2013 Jun 05; 172(6):851-3. PubMed ID: 23093139
    [Abstract] [Full Text] [Related]

  • 15. Genetics of hypophosphatasia.
    Mornet E.
    Arch Pediatr; 2017 May 05; 24(5S2):5S51-5S56. PubMed ID: 29405932
    [Abstract] [Full Text] [Related]

  • 16. Rare diseases: a challenge in paediatric dentistry.
    Giuca MR.
    Eur J Paediatr Dent; 2024 Sep 03; 25(3):171-171. PubMed ID: 39212455
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Prosthetic rehabilitation of hypophosphatasia: a case report.
    Bağiş B, Baltacioğlu E, Aydoğan E, Tamam E.
    Cases J; 2008 Dec 12; 2():7626. PubMed ID: 19918476
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
    Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E.
    Hum Mutat; 2003 Jul 12; 22(1):105-6. PubMed ID: 12815606
    [Abstract] [Full Text] [Related]

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