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Volumn 14, Issue 10, 2007, Pages 1216-1218

Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs;Maladie de Menkes néonatale : intérêts diagnostiques de la cuprémie et de l'examen microscopique des cheveux

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER;

EID: 34748888397     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2007.06.014     Document Type: Article
Times cited : (5)

References (9)
  • 1
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    • Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency
    • Kaler S.G. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am. J. Clin. Nutr. 67 (1998) 1029S-1034S
    • (1998) Am. J. Clin. Nutr. , vol.67
    • Kaler, S.G.1
  • 2
    • 0037477740 scopus 로고    scopus 로고
    • A delicate balance: homeostatic control of copper uptake and distribution
    • Pena M.M., Lee J., and Thiele D.J. A delicate balance: homeostatic control of copper uptake and distribution. J. Nutr. 129 (1999) 1251-1260
    • (1999) J. Nutr. , vol.129 , pp. 1251-1260
    • Pena, M.M.1    Lee, J.2    Thiele, D.J.3
  • 3
    • 0032769447 scopus 로고    scopus 로고
    • Molecular genetics and pathophysiology of Menkes disease
    • Kodama H., and Murata Y. Molecular genetics and pathophysiology of Menkes disease. Pediatr. Int. 41 (1999) 430-435
    • (1999) Pediatr. Int. , vol.41 , pp. 430-435
    • Kodama, H.1    Murata, Y.2
  • 4
    • 23844490950 scopus 로고    scopus 로고
    • Copper-replacement treatment for symptomatic Menkes disease: ethical considerations
    • Sheela S.R., Latha M., Liu P., et al. Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. Clin. Genet. 68 (2005) 278-283
    • (2005) Clin. Genet. , vol.68 , pp. 278-283
    • Sheela, S.R.1    Latha, M.2    Liu, P.3
  • 5
    • 0023750366 scopus 로고
    • Age- and sex-specific pediatric reference intervals and correlations for zinc, copper, selenium, iron, vitamins A and E, and related proteins
    • Lockitch G., Halstead A.C., Wadsworth L., et al. Age- and sex-specific pediatric reference intervals and correlations for zinc, copper, selenium, iron, vitamins A and E, and related proteins. Clin. Chem. 34 (1988) 1625-1628
    • (1988) Clin. Chem. , vol.34 , pp. 1625-1628
    • Lockitch, G.1    Halstead, A.C.2    Wadsworth, L.3
  • 6
    • 17644370629 scopus 로고    scopus 로고
    • Iron, copper and fetal development
    • Gambling L., and McArdle H.J. Iron, copper and fetal development. Proc. Nutr. Soc. 63 (2004) 553-562
    • (2004) Proc. Nutr. Soc. , vol.63 , pp. 553-562
    • Gambling, L.1    McArdle, H.J.2
  • 7
    • 28644442130 scopus 로고    scopus 로고
    • Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre
    • Smith V.V., Anderson G., Malone M., et al. Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre. J. Clin. Pathol. 58 (2005) 1294-1298
    • (2005) J. Clin. Pathol. , vol.58 , pp. 1294-1298
    • Smith, V.V.1    Anderson, G.2    Malone, M.3
  • 8
    • 0036821477 scopus 로고    scopus 로고
    • Hair as a diagnostic tool in dysmorphology
    • Silengo M., Valenzise M., Sorasio L., et al. Hair as a diagnostic tool in dysmorphology. Clin. Genet. 62 (2002) 270-272
    • (2002) Clin. Genet. , vol.62 , pp. 270-272
    • Silengo, M.1    Valenzise, M.2    Sorasio, L.3
  • 9
    • 17944404308 scopus 로고    scopus 로고
    • Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A
    • Tumer Z., Birk Moller L., and Horn N. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum. Mutat. 22 (2003) 457-464
    • (2003) Hum. Mutat. , vol.22 , pp. 457-464
    • Tumer, Z.1    Birk Moller, L.2    Horn, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.