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Journal Abstract Search

352 related items for PubMed ID: 31014398

  • 21. [Childhood hypophosphatasia: a case report due to a novel mutation].
    Draguet C, Gillerot Y, Mornet E.
    Arch Pediatr; 2004 May; 11(5):440-3. PubMed ID: 15135428
    [Abstract] [Full Text] [Related]

  • 22. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
    Stoll C, Fischbach M, Terzic J, Alembik Y, Vuillemin MO, Mornet E.
    Genet Couns; 2002 May; 13(3):289-95. PubMed ID: 12416636
    [Abstract] [Full Text] [Related]

  • 23. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.
    Mochizuki H, Saito M, Michigami T, Ohashi H, Koda N, Yamaguchi S, Ozono K.
    Eur J Pediatr; 2000 May; 159(5):375-9. PubMed ID: 10834525
    [Abstract] [Full Text] [Related]

  • 24. Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia.
    Maman E, Briot K, Roux C.
    Joint Bone Spine; 2016 May; 83(3):346-8. PubMed ID: 26992955
    [Abstract] [Full Text] [Related]

  • 25. 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; 173(3):601-610. PubMed ID: 28127875
    [Abstract] [Full Text] [Related]

  • 26. Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
    Okawa R, Kokomoto K, Kitaoka T, Kubota T, Watanabe A, Taketani T, Michigami T, Ozono K, Nakano K.
    PLoS One; 2019 Mar; 14(10):e0222931. PubMed ID: 31600233
    [Abstract] [Full Text] [Related]

  • 27. Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
    Araci MB, Akgun B, Atik T, Isik E, Ak G, Barutcuoglu B, Ozkinay F.
    Ann Clin Biochem; 2021 Jul; 58(4):335-341. PubMed ID: 33601892
    [Abstract] [Full Text] [Related]

  • 28. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
    Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S.
    Bone; 2015 Jun; 75():229-39. PubMed ID: 25731960
    [Abstract] [Full Text] [Related]

  • 29. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
    Mornet E.
    Hum Mutat; 2000 Jun; 15(4):309-15. PubMed ID: 10737975
    [Abstract] [Full Text] [Related]

  • 30. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
    Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E.
    Hum Mutat; 2001 Jun; 18(1):83-4. PubMed ID: 11438998
    [Abstract] [Full Text] [Related]

  • 31. A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene.
    Oto Y, Suzuki D, Morita T, Inoue T, Nitta A, Murakami N, Abe Y, Hamada Y, Akiyama T, Matsubara T.
    J Pediatr Endocrinol Metab; 2024 Mar 25; 37(3):276-279. PubMed ID: 38310522
    [Abstract] [Full Text] [Related]

  • 32. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
    Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP.
    Proc Natl Acad Sci U S A; 1992 Oct 15; 89(20):9924-8. PubMed ID: 1409720
    [Abstract] [Full Text] [Related]

  • 33. Hypophosphatasia in Taiwan: report of two cases.
    Chou YY, Ou HY, Wu TJ, Tsai SC, Lin SJ, Yu EH.
    Kaohsiung J Med Sci; 2005 Mar 15; 21(3):134-7. PubMed ID: 15875439
    [Abstract] [Full Text] [Related]

  • 34. Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.
    Alonso N, Larraz-Prieto B, Berg K, Lambert Z, Redmond P, Harris SE, Deary IJ, Pugh C, Prendergast J, Ralston SH.
    J Bone Miner Res; 2020 Apr 15; 35(4):657-661. PubMed ID: 31793067
    [Abstract] [Full Text] [Related]

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

  • 36. Clinical and genetic characteristics of hypophosphatasia in Chinese children.
    Liu M, Liu M, Liang X, Wu D, Li W, Su C, Cao B, Chen J, Gong C.
    Orphanet J Rare Dis; 2021 Apr 07; 16(1):159. PubMed ID: 33827627
    [Abstract] [Full Text] [Related]

  • 37. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
    Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik MN, Whyte MP.
    Mol Genet Metab; 2002 Feb 07; 75(2):143-53. PubMed ID: 11855933
    [Abstract] [Full Text] [Related]

  • 38. Bone mineral density and fracture risk in adult patients with hypophosphatasia.
    Genest F, Claußen L, Rak D, Seefried L.
    Osteoporos Int; 2021 Feb 07; 32(2):377-385. PubMed ID: 32879991
    [Abstract] [Full Text] [Related]

  • 39. Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels.
    Koyama H, Yasuda S, Kakoi S, Ohata Y, Shimizu Y, Hasegawa C, Hayakawa A, Akiyama T, Yagi T, Aotani D, Imaeda K, Ozono K, Kataoka H, Tanaka T.
    Intern Med; 2020 Mar 15; 59(6):811-815. PubMed ID: 31787692
    [Abstract] [Full Text] [Related]

  • 40. Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
    Riancho-Zarrabeitia L, García-Unzueta M, Tenorio JA, Gómez-Gerique JA, Ruiz Pérez VL, Heath KE, Lapunzina P, Riancho JA.
    Eur J Intern Med; 2016 Apr 15; 29():40-5. PubMed ID: 26783040
    [Abstract] [Full Text] [Related]

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