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Journal Abstract Search

152 related items for PubMed ID: 21342251

  • 1. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment.
    Mohn A, De Leonibus C, de Giorgis T, Mornet E, Chiarelli F.
    Acta Paediatr; 2011 Jul; 100(7):e43-6. PubMed ID: 21342251
    [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. 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; 46(3):302-7. PubMed ID: 27312557
    [Abstract] [Full Text] [Related]

  • 4. [Congenital hypophosphatasia].
    Terheggen HG, Wischermann A.
    Monatsschr Kinderheilkd; 1984 Jul; 132(7):512-22. PubMed ID: 6147751
    [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. Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
    Utsch B, Brun-Heath I, Staatz G, Gravou-Apostolatou C, Karle S, Jacobs U, Ludwig M, Zenker M, Dörr HG, Rascher W, Mornet E, Dötsch J.
    Exp Clin Endocrinol Diabetes; 2009 Jan; 117(1):28-33. PubMed ID: 18523927
    [Abstract] [Full Text] [Related]

  • 7. [A novel mutation in infant hypophophatasia: a case report].
    Halioui-Louhaïchi S, Ben M'barek S, Ben Hariz M, Ben Farhat L, Briki S, Hendaoui L, Mornet E, Maherzi A.
    Tunis Med; 2007 May; 85(5):433-6. PubMed ID: 17657935
    [Abstract] [Full Text] [Related]

  • 8. [Rickets-like genetic diseases].
    Ma HW.
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):923-7. PubMed ID: 24229581
    [Abstract] [Full Text] [Related]

  • 9. Hypophosphatasia.
    Linglart A, Biosse-Duplan M.
    Curr Osteoporos Rep; 2016 Jun; 14(3):95-105. PubMed ID: 27084188
    [Abstract] [Full Text] [Related]

  • 10. Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health.
    Lin EL, Gottesman GS, McAlister WH, Bijanki VN, Mack KE, Griffin DM, Mumm S, Whyte MP.
    Bone; 2020 Jul; 136():115322. PubMed ID: 32200022
    [Abstract] [Full Text] [Related]

  • 11. Severe perinatal hypophosphatasia case with a novel mutation.
    Yazici H, Canda E, Kalkan Ucar S, Coker M.
    Arch Argent Pediatr; 2022 Feb; 120(1):e21-e24. PubMed ID: 35068125
    [Abstract] [Full Text] [Related]

  • 12. A comparison of calcium, vitamin D, or both for nutritional rickets in Nigerian children.
    Thacher TD, Fischer PR, Pettifor JM, Lawson JO, Isichei CO, Reading JC, Chan GM.
    N Engl J Med; 1999 Aug 19; 341(8):563-8. PubMed ID: 10451461
    [Abstract] [Full Text] [Related]

  • 13. 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 19; 22(1):105-6. PubMed ID: 12815606
    [Abstract] [Full Text] [Related]

  • 14. Positive maternal serum triple test screening in severe early onset hypophosphatasia.
    Witters I, Moerman P, Mornet E, Fryns JP.
    Prenat Diagn; 2004 Jul 19; 24(7):494-7. PubMed ID: 15300736
    [Abstract] [Full Text] [Related]

  • 15. [SEVERE INFANTILE HYPOPHOSPHATASIA].
    Gurevich E, Landau D.
    Harefuah; 2017 Jan 19; 156(1):27-28. PubMed ID: 28530318
    [Abstract] [Full Text] [Related]

  • 16. [Hypophosphatasia--biochemical and clinical manifestations, molecular genetic principles].
    Chandoga I, Futas J, Petrovic R, Chandoga J.
    Cas Lek Cesk; 2011 Jan 19; 150(10):541-5. PubMed ID: 22132624
    [Abstract] [Full Text] [Related]

  • 17. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
    Mornet E.
    Hum Mutat; 2000 Jan 19; 15(4):309-15. PubMed ID: 10737975
    [Abstract] [Full Text] [Related]

  • 18. 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 Jan 19; 18(1):83-4. PubMed ID: 11438998
    [Abstract] [Full Text] [Related]

  • 19. 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 19; 21(3):134-7. PubMed ID: 15875439
    [Abstract] [Full Text] [Related]

  • 20. 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]

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