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Journal Abstract Search

151 related items for PubMed ID: 10834525

  • 1. 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]

  • 2. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
    Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W.
    Bone; 2007 Jun; 40(6):1655-61. PubMed ID: 17395561
    [Abstract] [Full Text] [Related]

  • 3. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
    Michigami T, Uchihashi T, Suzuki A, Tachikawa K, Nakajima S, Ozono K.
    Eur J Pediatr; 2005 May; 164(5):277-82. PubMed ID: 15660230
    [Abstract] [Full Text] [Related]

  • 4. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.
    Fukushima K, Kawai-Kowase K, Yonemoto Y, Fujiwara M, Sato H, Sato M, Kubota T, Ozono K, Tamura J.
    J Med Case Rep; 2019 Apr 24; 13(1):101. PubMed ID: 31014398
    [Abstract] [Full Text] [Related]

  • 5. 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 Apr 24; 13(3):289-95. PubMed ID: 12416636
    [Abstract] [Full Text] [Related]

  • 6. 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 Apr 24; 18(1):83-4. PubMed ID: 11438998
    [Abstract] [Full Text] [Related]

  • 7. Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
    Taillandier A, Sallinen SL, Brun-Heath I, De Mazancourt P, Serre JL, Mornet E.
    J Clin Endocrinol Metab; 2005 Apr 24; 90(4):2436-9. PubMed ID: 15671102
    [Abstract] [Full Text] [Related]

  • 8. [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 24; 52(10):824-8. PubMed ID: 24378058
    [Abstract] [Full Text] [Related]

  • 9. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
    Sugimoto N, Iwamoto S, Hoshino Y, Kajii E.
    J Hum Genet; 1998 Oct 24; 43(3):160-4. PubMed ID: 9747027
    [Abstract] [Full Text] [Related]

  • 10. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
    Müller HL, Yamazaki M, Michigami T, Kageyama T, Schönau E, Schneider P, Ozono K.
    J Clin Endocrinol Metab; 2000 Feb 24; 85(2):743-7. PubMed ID: 10690885
    [Abstract] [Full Text] [Related]

  • 11. [Congenital hypophosphatasia].
    Terheggen HG, Wischermann A.
    Monatsschr Kinderheilkd; 1984 Jul 24; 132(7):512-22. PubMed ID: 6147751
    [Abstract] [Full Text] [Related]

  • 12. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.
    Henthorn PS, Whyte MP.
    Clin Chem; 1992 Dec 24; 38(12):2501-5. PubMed ID: 1360878
    [Abstract] [Full Text] [Related]

  • 13. Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.
    Petković Ramadza D, Stipoljev F, Sarnavka V, Begović D, Potocki K, Fumić K, Mornet E, Barić I.
    Coll Antropol; 2009 Dec 24; 33(4):1255-8. PubMed ID: 20102078
    [Abstract] [Full Text] [Related]

  • 14. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
    Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, Satomura K, Yasui N, Okada S, Nakayama M.
    J Clin Endocrinol Metab; 1996 Dec 24; 81(12):4458-61. PubMed ID: 8954059
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.
    Komaru K, Satou Y, Al-Shawafi HA, Numa-Kinjoh N, Sohda M, Oda K.
    FEBS J; 2016 Mar 15; 283(6):1168-79. PubMed ID: 26797772
    [Abstract] [Full Text] [Related]

  • 17. Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia.
    Zhang H, Ke YH, Wang C, Yue H, Hu WW, Gu JM, Zhang ZL.
    Arch Med Res; 2012 Jan 15; 43(1):21-30. PubMed ID: 22300680
    [Abstract] [Full Text] [Related]

  • 18. Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.
    Demirbilek H, Alanay Y, Alikaşifoğlu A, Topçu M, Mornet E, Gönç N, Özön A, Kandemir N.
    J Clin Res Pediatr Endocrinol; 2012 Mar 15; 4(1):34-8. PubMed ID: 22394703
    [Abstract] [Full Text] [Related]

  • 19. First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
    Park EG, Cho SY, Lee J, Kim J, Cho H, Kim J, Huh R, Ki CS, Kim OH, Jin DK.
    Ann Clin Lab Sci; 2016 May 15; 46(3):302-7. PubMed ID: 27312557
    [Abstract] [Full Text] [Related]

  • 20. Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
    Litmanovitz, Reish O, Dolfin T, Arnon S, Regev R, Grinshpan G, Yamazaki M, Ozono K.
    J Inherit Metab Dis; 2002 Feb 15; 25(1):35-40. PubMed ID: 11999978
    [Abstract] [Full Text] [Related]

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