메뉴 건너뛰기




Volumn 24, Issue 7, 2002, Pages 715-718

Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement

Author keywords

Carrier diagnosis; Copper concentration; Copper transporting ATPase; Menkes disease; Prenatal diagnosis

Indexed keywords

COPPER;

EID: 0036808213     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(02)00093-1     Document Type: Article
Times cited : (29)

References (10)
  • 1
    • 0032783060 scopus 로고    scopus 로고
    • Clinical manifestations and treatment of Menkes disease and its variants
    • Kodama H., Murata Y., Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int. 41:1999;423-429.
    • (1999) Pediatr Int , vol.41 , pp. 423-429
    • Kodama, H.1    Murata, Y.2    Kobayashi, M.3
  • 2
    • 0021054101 scopus 로고
    • Menkes' X-linked disease: Prenatal diagnosis and carrier detection
    • Horn N. Menkes' X-linked disease: prenatal diagnosis and carrier detection. J Inherit Metab Dis. 6:(Suppl 1):1983;59-62.
    • (1983) J Inherit Metab Dis , vol.6 , Issue.SUPPL. 1 , pp. 59-62
    • Horn, N.1
  • 3
    • 0033403251 scopus 로고    scopus 로고
    • Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens
    • Heydorn K., Damsgaard E., Horn N. Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens. Biol Trace Elem Res. 71-72:1999;551-561.
    • (1999) Biol Trace Elem Res , vol.71-72 , pp. 551-561
    • Heydorn, K.1    Damsgaard, E.2    Horn, N.3
  • 4
    • 0035869131 scopus 로고    scopus 로고
    • ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome
    • Gu Y.H., Kodama H., Murata Y., Mochizuki D., Yanagawa Y., Ushijima H., et al. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am J Med Genet. 99:2001;217-222.
    • (2001) Am J Med Genet , vol.99 , pp. 217-222
    • Gu, Y.H.1    Kodama, H.2    Murata, Y.3    Mochizuki, D.4    Yanagawa, Y.5    Ushijima, H.6
  • 5
    • 0032917818 scopus 로고    scopus 로고
    • Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
    • Ogawa A., Yamamoto S., Takayanagi M., Kogo T., Kanazawa M., Kohno Y. Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease. J Hum Genet. 44:1999;206-209.
    • (1999) J Hum Genet , vol.44 , pp. 206-209
    • Ogawa, A.1    Yamamoto, S.2    Takayanagi, M.3    Kogo, T.4    Kanazawa, M.5    Kohno, Y.6
  • 6
    • 0033278332 scopus 로고    scopus 로고
    • Mutation spectrum of ATP7A, the gene defective in Menkes disease
    • Tümer Z., Møller L.B., Horn N. Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol. 448:1999;83-95.
    • (1999) Adv Exp Med Biol , vol.448 , pp. 83-95
    • Tümer, Z.1    Møller, L.B.2    Horn, N.3
  • 9
    • 0028015745 scopus 로고
    • First trimester prenatal diagnosis of Menkes disease by DNA analysis
    • Tümer Z., Tønnesen T., Böhmann J., Marg W., Horn N. First trimester prenatal diagnosis of Menkes disease by DNA analysis. J Med Genet. 31:1994;615-617.
    • (1994) J Med Genet , vol.31 , pp. 615-617
    • Tümer, Z.1    Tønnesen, T.2    Böhmann, J.3    Marg, W.4    Horn, N.5
  • 10
    • 0030928379 scopus 로고    scopus 로고
    • Menkes disease: Recent advances and new aspects
    • Tümer Z., Horn N. Menkes disease: recent advances and new aspects. J Med Genet. 34:1997;265-274.
    • (1997) J Med Genet , vol.34 , pp. 265-274
    • Tümer, Z.1    Horn, N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.