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Volumn 76, Issue 896, 2000, Pages 369-372

Pseudovitamin D deficiency rickets - A report from the Indian subcontinent

Author keywords

1 hydroxylase; Calcitriol; Inherited rickets; Vitamin D dependent rickets

Indexed keywords

25 HYDROXYVITAMIN D; CALCIDIOL 1 MONOOXYGENASE; CALCITRIOL; VITAMIN D;

EID: 0034075291     PISSN: 00325473     EISSN: None     Source Type: Journal    
DOI: 10.1136/pmj.76.896.369     Document Type: Article
Times cited : (7)

References (12)
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    • The 25 hydroxyvitamin D 1-alpha hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus
    • St-Arnaud R, Messerlian S, Moir JM, et al. The 25 hydroxyvitamin D 1-alpha hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J Bone Miner Res 1997;12:1553-9.
    • (1997) J Bone Miner Res , vol.12 , pp. 1553-1559
    • St-Arnaud, R.1    Messerlian, S.2    Moir, J.M.3
  • 2
    • 0001482795 scopus 로고
    • The excretion of acid in renal disease
    • Wrong OM, Davies HEF. The excretion of acid in renal disease. Q J Med 1959;28:259-313.
    • (1959) Q J Med , vol.28 , pp. 259-313
    • Wrong, O.M.1    Davies, H.E.F.2
  • 5
    • 0016593491 scopus 로고
    • Response to crystalline 1 α-hydroxyvitamin D3 in vitamin D dependency
    • Reade TM, Scriver CR, Glorieux FH. Response to crystalline 1 α-hydroxyvitamin D3 in vitamin D dependency. Pediatr Res 1975;9:593-9.
    • (1975) Pediatr Res , vol.9 , pp. 593-599
    • Reade, T.M.1    Scriver, C.R.2    Glorieux, F.H.3
  • 6
    • 0015929252 scopus 로고
    • Pathogenesis of hereditary vitamin D dependent rickets: An inborn error of vitamin D metabolism involving defective conversion of 25 hydroxyvitamin D to 1α,25 dihydroxyvitamin D
    • Fraser D, Kooh SW, Kind HP, et al. Pathogenesis of hereditary vitamin D dependent rickets: an inborn error of vitamin D metabolism involving defective conversion of 25 hydroxyvitamin D to 1α,25 dihydroxyvitamin D. N Engl J Med 1973;289:817-22.
    • (1973) N Engl J Med , vol.289 , pp. 817-822
    • Fraser, D.1    Kooh, S.W.2    Kind, H.P.3
  • 7
    • 0024268931 scopus 로고
    • Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
    • Hughes MR, Malloy PJ, Kieback DG, et al. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 1988;242:1702-5.
    • (1988) Science , vol.242 , pp. 1702-1705
    • Hughes, M.R.1    Malloy, P.J.2    Kieback, D.G.3
  • 10
    • 0029160578 scopus 로고
    • A gene (PEX) with homologies to endopeptidases in mutated in patients with x-linked hypophosphatemic rickets
    • HYP consortium. A gene (PEX) with homologies to endopeptidases in mutated in patients with x-linked hypophosphatemic rickets. Nat Genet 1995;11:130-6.
    • (1995) Nat Genet , vol.11 , pp. 130-136
  • 11
    • 0025369001 scopus 로고
    • Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis
    • Labuda M, Morgan K, Glorieux FH. Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis. Am J Hum Genet 1990;47:28-36.
    • (1990) Am J Hum Genet , vol.47 , pp. 28-36
    • Labuda, M.1    Morgan, K.2    Glorieux, F.H.3
  • 12
    • 0032485525 scopus 로고    scopus 로고
    • 3 1 α hydroxylase gene in patients with pseudovitamin D-deficiency rickets
    • 3 1 α hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 1998;338:653-61.
    • (1998) N Engl J Med , vol.338 , pp. 653-661
    • Kitanaka, S.1    Takeyama, K.2    Murayama, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.