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Journal Abstract Search

159 related items for PubMed ID: 16147829

  • 21. Twenty-year follow-up of a case of hypophosphatasia.
    Robinow M.
    Birth Defects Orig Artic Ser; 1971 May; 7(6):86-93. PubMed ID: 5173195
    [Abstract] [Full Text] [Related]

  • 22. Hypophosphatasia.
    Macpherson RI, Kroeker M, Houston CS.
    J Can Assoc Radiol; 1972 Mar; 23(1):16-26. PubMed ID: 5020955
    [No Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Vitamin D deficiency rickets and allegations of non-accidental injury.
    Feldman KW, Done S.
    Acta Paediatr; 2010 Apr; 99(4):486-7. PubMed ID: 20353519
    [No Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Two siblings with hypophosphatasia.
    Nakanishi I, Masuda S, Katsuda S, Kihara J, Ihara M, Yamazaki C.
    Acta Pathol Jpn; 1980 Jul; 30(4):621-9. PubMed ID: 7415841
    [Abstract] [Full Text] [Related]

  • 27. [A case of hypophosphatasia in an infant].
    Scotta MS, Marzani MD, Abbati G, Panza A, Bailo C.
    Pediatr Med Chir; 1982 Jul; 4(4):447-50. PubMed ID: 7170220
    [Abstract] [Full Text] [Related]

  • 28. Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.
    Chodirker BN, Evans JA, Seargeant LE, Cheang MS, Greenberg CR.
    Am J Hum Genet; 1990 Feb; 46(2):280-5. PubMed ID: 2301398
    [Abstract] [Full Text] [Related]

  • 29. Absence of recognition of low alkaline phosphatase level in a tertiary care hospital.
    Maman E, Borderie D, Roux C, Briot K.
    Osteoporos Int; 2016 Mar; 27(3):1251-1254. PubMed ID: 26446772
    [Abstract] [Full Text] [Related]

  • 30. Clinical, radiographic and biochemical characteristics of adult hypophosphatasia.
    Schmidt T, Mussawy H, Rolvien T, Hawellek T, Hubert J, Rüther W, Amling M, Barvencik F.
    Osteoporos Int; 2017 Sep; 28(9):2653-2662. PubMed ID: 28547134
    [Abstract] [Full Text] [Related]

  • 31. Prenatal diagnosis of congenital hypophosphatasia: challenge met most adequately by fetal radiography.
    Leroy JG, Vanneuville FJ, De Schepper AM, Scharff RR, Keersmaeckers GH, Van Elsen AF.
    Prog Clin Biol Res; 1982 Sep; 104():525-39. PubMed ID: 7163290
    [No Abstract] [Full Text] [Related]

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

  • 33. [Loss of teeth in a 1-year-old child].
    Lehtinen P, Aine L, Ala-Houhala M, Lenko HL.
    Duodecim; 1994 Sep; 110(18):1702-6. PubMed ID: 7555760
    [No Abstract] [Full Text] [Related]

  • 34. [Congenital hypophosphatasia and dental organogenesis].
    Laplane R, Bureau P, Lasfargues G, Deffez JP, Mougenot JF, Plante P, Bornet C.
    Rev Stomatol Chir Maxillofac; 1972 Nov; 73(7):543-60. PubMed ID: 4513261
    [No Abstract] [Full Text] [Related]

  • 35. Hypophosphatasia: the contribution of imaging.
    Linglart A, Salles JP.
    Arch Pediatr; 2017 May; 24(5S2):5S74-5S79. PubMed ID: 29405937
    [Abstract] [Full Text] [Related]

  • 36. Severe cleidocranial dysplasia can mimic hypophosphatasia.
    Unger S, Mornet E, Mundlos S, Blaser S, Cole DE.
    Eur J Pediatr; 2002 Nov; 161(11):623-6. PubMed ID: 12424591
    [Abstract] [Full Text] [Related]

  • 37. Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.
    Whyte MP, Mahuren JD, Fedde KN, Cole FS, McCabe ER, Coburn SP.
    J Clin Invest; 1988 Apr; 81(4):1234-9. PubMed ID: 3350970
    [Abstract] [Full Text] [Related]

  • 38. Low serum alkaline phosphatase activity due to asymptomatic hypophosphatasia in a teenage girl.
    Shajani-Yi Z, Johnston AA, Casella SJ, Cervinski MA.
    Clin Biochem; 2018 Sep; 59():90-92. PubMed ID: 29958879
    [Abstract] [Full Text] [Related]

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

  • 40. Metabolic bone disease screening practices among U.S. neonatologists.
    Kelly A, Kovatch KJ, Garber SJ.
    Clin Pediatr (Phila); 2014 Oct; 53(11):1077-83. PubMed ID: 24872339
    [Abstract] [Full Text] [Related]

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