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Journal Abstract Search

233 related items for PubMed ID: 15875439

  • 1. 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; 21(3):134-7. PubMed ID: 15875439
    [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. [Congenital hypophosphatasia].
    Terheggen HG, Wischermann A.
    Monatsschr Kinderheilkd; 1984 Jul; 132(7):512-22. PubMed ID: 6147751
    [Abstract] [Full Text] [Related]

  • 4. Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms.
    Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP.
    Medicine (Baltimore); 1984 Jan; 63(1):12-24. PubMed ID: 6690884
    [Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. [Hypophosphatasia--biochemical and clinical manifestations, molecular genetic principles].
    Chandoga I, Futas J, Petrovic R, Chandoga J.
    Cas Lek Cesk; 2011 May; 150(10):541-5. PubMed ID: 22132624
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. [Hypophosphatasia in an adult, with late clinical manifestations (author's transl)].
    Paolaggi JB, Job C, Durigon M, Alterescu R, Auquier L.
    Nouv Presse Med; 1978 Dec 30; 7(47):4285-9. PubMed ID: 745977
    [Abstract] [Full Text] [Related]

  • 9. Hypophosphatasia.
    Rockman-Greenberg C.
    Pediatr Endocrinol Rev; 2013 Jun 30; 10 Suppl 2():380-8. PubMed ID: 23858621
    [Abstract] [Full Text] [Related]

  • 10. Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form.
    Iqbal SJ, Plaha DS, Linforth GH, Dalgleish R.
    Clin Sci (Lond); 1999 Jul 30; 97(1):73-8. PubMed ID: 10369796
    [Abstract] [Full Text] [Related]

  • 11. Isoenzymes of alkaline phosphatase in infantile hypophosphatasia.
    Mueller HD, Stinson RA, Mohyuddin F, Milne JK.
    J Lab Clin Med; 1983 Jul 30; 102(1):24-30. PubMed ID: 6854132
    [Abstract] [Full Text] [Related]

  • 12. 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 30; 75(2):143-53. PubMed ID: 11855933
    [Abstract] [Full Text] [Related]

  • 13. [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]

  • 14. Osteomalacia with low alkaline phosphatase: a not so rare condition with important consequences.
    Belkhouribchia J, Bravenboer B, Meuwissen M, Velkeniers B.
    BMJ Case Rep; 2016 Jan 28; 2016():. PubMed ID: 26823351
    [Abstract] [Full Text] [Related]

  • 15. [Bone pain, spontaneous fractures, muscle weakness].
    Walger P, Baumgart P, Lehnert H, Vetter H.
    Schweiz Rundsch Med Prax; 1987 Oct 06; 76(41):1141-5. PubMed ID: 3671950
    [No Abstract] [Full Text] [Related]

  • 16. Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.
    Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P.
    BMC Pediatr; 2007 Jan 23; 7():3. PubMed ID: 17241478
    [Abstract] [Full Text] [Related]

  • 17. Heterogeneity of adult hypophosphatasia. Report of severe and mild cases.
    Weinstein RS, Whyte MP.
    Arch Intern Med; 1981 May 23; 141(6):727-31. PubMed ID: 7235780
    [Abstract] [Full Text] [Related]

  • 18. Neonatal hypophosphatasia and seizures. A case report.
    Smilari P, Romeo DM, Palazzo P, Meli C, Sorge G.
    Minerva Pediatr; 2005 Oct 23; 57(5):319-23. PubMed ID: 16205618
    [Abstract] [Full Text] [Related]

  • 19. 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 Oct 23; 13(3):289-95. PubMed ID: 12416636
    [Abstract] [Full Text] [Related]

  • 20. 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 23; 43(3):160-4. PubMed ID: 9747027
    [Abstract] [Full Text] [Related]

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