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Journal Abstract Search

352 related items for PubMed ID: 31014398

  • 41. Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
    Nagata M, Setoh K, Takahashi M, Higasa K, Kawaguchi T, Kawasaki H, Wada T, Watanabe A, Sawai H, Tabara Y, Yamada T, Matsuda F, Kosugi S.
    J Hum Genet; 2020 Mar; 65(3):337-343. PubMed ID: 31857675
    [Abstract] [Full Text] [Related]

  • 42. 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. PubMed ID: 17384481
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  • 43. Genetic analysis of adults heterozygous for ALPL mutations.
    Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Geneviève D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E.
    J Bone Miner Metab; 2018 Nov; 36(6):723-733. PubMed ID: 29236161
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  • 44. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
    Porntaveetus T, Srichomthong C, Suphapeetiporn K, Shotelersuk V.
    Am J Med Genet A; 2017 Oct; 173(10):2747-2752. PubMed ID: 28763161
    [Abstract] [Full Text] [Related]

  • 45. [Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
    Zhao Z, Xia WB, Xing XP, Li M, Wang O, Jiang Y, Xu LJ, Li N.
    Zhonghua Nei Ke Za Zhi; 2013 Oct; 52(10):824-8. PubMed ID: 24378058
    [Abstract] [Full Text] [Related]

  • 46. Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations.
    Kitoh H, Izawa M, Kaneko H, Kitamura A, Matsuyama S, Kato K, Ogi T.
    Bone Rep; 2022 Dec; 17():101626. PubMed ID: 36217348
    [Abstract] [Full Text] [Related]

  • 47. Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.
    Chang KC, Lin PH, Su YN, Peng SS, Lee NC, Chou HC, Chen CY, Hsieh WS, Tsao PN.
    J Bone Miner Metab; 2012 Jan; 30(1):109-13. PubMed ID: 21638016
    [Abstract] [Full Text] [Related]

  • 48. Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
    Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ, Nociti FH.
    Bone; 2013 Oct; 56(2):390-7. PubMed ID: 23791648
    [Abstract] [Full Text] [Related]

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

  • 50. A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
    Martins L, Dos Santos EL, de Almeida AB, Machado RA, Lyrio AM, Foster BL, Kantovitz KR, Coletta RD, Nociti FH.
    Osteoporos Int; 2020 Nov; 31(11):2251-2257. PubMed ID: 32572521
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  • 57. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.
    Henthorn PS, Whyte MP.
    Clin Chem; 1992 Dec; 38(12):2501-5. PubMed ID: 1360878
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  • 58. Massive calcification around large joints in a patient subsequently diagnosed with adult-onset hypophosphatasia.
    Koga M, Kinoshita Y, Kato H, Kobayashi H, Shinoda Y, Nangaku M, Makita N, Dahir KM, Ito N.
    Osteoporos Int; 2022 Feb; 33(2):505-509. PubMed ID: 34494146
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  • 60. Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.
    Gagnon C, Sims NA, Mumm S, McAuley SA, Jung C, Poulton IJ, Ng KW, Ebeling PR.
    J Clin Endocrinol Metab; 2010 Mar; 95(3):1007-12. PubMed ID: 20089612
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