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Volumn 28, Issue 4, 2005, Pages 473-478

A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis

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Indexed keywords

COPPER;

EID: 19944380178     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-0473-3     Document Type: Article
Times cited : (44)

References (9)
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    • Disorder of copper transport
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    • Culotta VC, Gitlin JD (2001) Disorder of copper transport.In: Scriver CR, Beaudet AR, Sly W, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc.eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn.New York: McGraw-Hill, 3105-3126.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3105-3126
    • Culotta, V.C.1    Gitlin, J.D.2
  • 2
    • 0015222459 scopus 로고
    • Is Menkes' syndrome a heritable disorder of connective tissue?
    • Danks DM, Cartwright E, Campbell PE, Mayne V (1971) Is Menkes' syndrome a heritable disorder of connective tissue? Lancet II: 1089.
    • (1971) Lancet , vol.2 , pp. 1089
    • Danks, D.M.1    Cartwright, E.2    Campbell, P.E.3    Mayne, V.4
  • 4
    • 0035869131 scopus 로고    scopus 로고
    • ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome
    • Gu YH, Kodama H, Murata Y, et al (2001) ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am J Med Genet 99: 217-222.
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 217-222
    • Gu, Y.H.1    Kodama, H.2    Murata, Y.3
  • 5
    • 0036808213 scopus 로고    scopus 로고
    • Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
    • Gu YH, Kodama H, Sato E, et al (2002) Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement. Brain Dev 24: 715-718.
    • (2002) Brain Dev. , vol.24 , pp. 715-718
    • Gu, Y.H.1    Kodama, H.2    Sato, E.3
  • 6
    • 19944369037 scopus 로고    scopus 로고
    • Drug targets in Menkes disease - Prospective developments
    • Kodama H, Gu YH, Mizunuma M (2001) Drug targets in Menkes disease - prospective developments. Expert Opin Ther Targets 5: 625-635.
    • (2001) Expert. Opin. Ther. Targets , vol.5 , pp. 625-635
    • Kodama, H.1    Gu, Y.H.2    Mizunuma, M.3
  • 7
    • 19944363798 scopus 로고    scopus 로고
    • Live births by birth weight and sex, live births by period of gestation, number of low birth weight infants
    • Mothers',Children's and Families Health Education Group Tokyo: Mothers' & Childrens' Health Organization
    • Mothers',Children's and Families Health Education Group (2002) Live births by birth weight and sex, live births by period of gestation, number of low birth weight infants.In: Maternal and ChildHealth Statistics of Japan.Tokyo: Mothers' & Childrens' Health Organization, 42-100.
    • (2002) Maternal and Child Health Statistics of Japan , pp. 42-100
  • 9
    • 0031025976 scopus 로고    scopus 로고
    • Identification of point mutations in 41 unrelated patients affected with Menkes disease
    • Tumer Z, Lund C, Tolshave J, Vural B, Tonnesen T, Horn N (1997) Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet 60: 63-67.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 63-67
    • Tumer, Z.1    Lund, C.2    Tolshave, J.3    Vural, B.4    Tonnesen, T.5    Horn, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.