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Volumn 30, Issue 3, 2004, Pages 216-218

A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; ALKALINE PHOSPHATASE; ANTICONVULSIVE AGENT; CLONAZEPAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXAL 5 PHOSPHATE; VALPROIC ACID;

EID: 1642329991     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2003.08.003     Document Type: Article
Times cited : (23)

References (8)
  • 1
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    • Whyte M.P., Magill H.L., Fallon M.D., Herrod H.G. Infantile hypophosphatasia Normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization (evidence for an intact structural gene for tissue nonspecific alkaline phosphatase). J Pediatr. 108:1986;82-85.
    • (1986) J Pediatr , vol.108 , pp. 82-85
    • Whyte, M.P.1    Magill, H.L.2    Fallon, M.D.3    Herrod, H.G.4
  • 2
    • 0022381584 scopus 로고
    • Histologic and ultrastructural studies on the mineralization process in hypophosphatasia
    • Ornoy A., Adomian G.E., Rimoin D.L. Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am J Med Genet. 22:1985;743-758.
    • (1985) Am J Med Genet , vol.22 , pp. 743-758
    • Ornoy, A.1    Adomian, G.E.2    Rimoin, D.L.3
  • 3
    • 0026053143 scopus 로고
    • Perinatal lethal hypophosphatasia: Clinical radiologic and morphologic findings
    • Shohat M., Rimoin D.L., Gruber H.E., Lachman R.S. Perinatal lethal hypophosphatasia Clinical radiologic and morphologic findings. Pediatr Radiol. 21:1991;421-427.
    • (1991) Pediatr Radiol , vol.21 , pp. 421-427
    • Shohat, M.1    Rimoin, D.L.2    Gruber, H.E.3    Lachman, R.S.4
  • 4
    • 0029115393 scopus 로고
    • Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6
    • Waymire K.G., Mahuren J.D., Jaje J.M., et al. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat Genet. 11:1995;45-51.
    • (1995) Nat Genet , vol.11 , pp. 45-51
    • Waymire, K.G.1    Mahuren, J.D.2    Jaje, J.M.3
  • 5
    • 0021811803 scopus 로고
    • Markedly increased circulating pyridoxal 5′;-phosphate concentrations in hypophosphatasia (alkaline phosphatase acts in vitamin B6 metabolism)
    • Whyte M.P., Mahuren J.D., Vrabel L.A., Coburn S.P. Markedly increased circulating pyridoxal 5′;-phosphate concentrations in hypophosphatasia (alkaline phosphatase acts in vitamin B6 metabolism). J Clin Invest. 76:1985;752-756.
    • (1985) J Clin Invest , vol.76 , pp. 752-756
    • Whyte, M.P.1    Mahuren, J.D.2    Vrabel, L.A.3    Coburn, S.P.4
  • 6
    • 0025184825 scopus 로고
    • Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal 5′;-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study
    • Fedde K.N., Whyte M.P. Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal 5′;-phosphate ectophosphatase Normal and hypophosphatasia fibroblast study. Am J Hum Genet. 47:1990;767-775.
    • (1990) Am J Hum Genet , vol.47 , pp. 767-775
    • Fedde, K.N.1    Whyte, M.P.2
  • 7
    • 0036018872 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn
    • Nunes M.L., Mugnol F., Bica I., Fiori R.M. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol. 17:2002;222-224.
    • (2002) J Child Neurol , vol.17 , pp. 222-224
    • Nunes, M.L.1    Mugnol, F.2    Bica, I.3    Fiori, R.M.4
  • 8
    • 0036213972 scopus 로고    scopus 로고
    • Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions
    • Litmanovitz I., Reish O., Dolfin T., et al. Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. J Inherit Metab Dis. 25:2002;35-40.
    • (2002) J Inherit Metab Dis , vol.25 , pp. 35-40
    • Litmanovitz, I.1    Reish, O.2    Dolfin, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.