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Volumn 42, Issue 5, 2000, Pages 347-348

Congenital skull fracture as a presentation of Menkes disease

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; COPPER; HISTIDINE; PHENOBARBITAL;

EID: 0034025971     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2000.tb00103.x     Document Type: Article
Times cited : (12)

References (11)
  • 1
    • 0005017259 scopus 로고
    • Menkes' kinky-hair syndrome: Report of a case in a female infant
    • Barton N, Dambrosia J, Barranger J. (1983) Menkes' kinky-hair syndrome: report of a case in a female infant. Neurology 33: 154.
    • (1983) Neurology , vol.33 , pp. 154
    • Barton, N.1    Dambrosia, J.2    Barranger, J.3
  • 2
    • 0028080313 scopus 로고
    • X;1 translocation in a female Menkes' patient: Characterisation by fluorescence in situ hybridisation
    • Beck J, Enders H, Schliephacke M, Buchwald-Saal M, Turner Z. (1994) X;1 translocation in a female Menkes' patient: characterisation by fluorescence in situ hybridisation. Clinical Genetics 46: 295-8.
    • (1994) Clinical Genetics , vol.46 , pp. 295-298
    • Beck, J.1    Enders, H.2    Schliephacke, M.3    Buchwald-Saal, M.4    Turner, Z.5
  • 5
    • 0021086474 scopus 로고
    • Possibility of Menkes-like disorder of copper metabolism in a girl
    • Favier A, Boujet C. (1983) Possibility of Menkes-like disorder of copper metabolism in a girl. Journal of Inherited Metabolic Disease 6: 89.
    • (1983) Journal of Inherited Metabolic Disease , vol.6 , pp. 89
    • Favier, A.1    Boujet, C.2
  • 6
    • 0025225636 scopus 로고
    • Clinical expression of Menkes' syndrome in females
    • Gerdes A, Tonneson T, Horn N. (1990) Clinical expression of Menkes' syndrome in females. Clinical Genetics 38: 452-9.
    • (1990) Clinical Genetics , vol.38 , pp. 452-459
    • Gerdes, A.1    Tonneson, T.2    Horn, N.3
  • 7
    • 0018778237 scopus 로고
    • Menkes' kinky hair syndrome: Report of an autopsy case and his female sibling with similar clinical manifestations
    • Iwakawa Y, Niwa T, Tomita M. (1979) Menkes' kinky hair syndrome: report of an autopsy case and his female sibling with similar clinical manifestations. Brain Development 11: 260-6.
    • (1979) Brain Development , vol.11 , pp. 260-266
    • Iwakawa, Y.1    Niwa, T.2    Tomita, M.3
  • 9
    • 78651124591 scopus 로고
    • A sexlinked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration
    • Menkes J, Alter M, Steigleder G, Weakley D, Sung J. (1962) A sexlinked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29: 764-79.
    • (1962) Pediatrics , vol.29 , pp. 764-779
    • Menkes, J.1    Alter, M.2    Steigleder, G.3    Weakley, D.4    Sung, J.5
  • 10
    • 0030928379 scopus 로고    scopus 로고
    • Menkes disease: Recent advances and new aspects
    • Tumer Z, Horn N. (1997) Menkes disease: recent advances and new aspects. Journal of Medical Genetics 34: 265-74.
    • (1997) Journal of Medical Genetics , vol.34 , pp. 265-274
    • Tumer, Z.1    Horn, N.2
  • 11
    • 0031848345 scopus 로고    scopus 로고
    • Menkes disease : Underlying genetic defect and new diagnostic possibilities
    • _(1999) Menkes disease : underlying genetic defect and new diagnostic possibilities. Journal of Inherited Metabolic Disease 21: 604-12.
    • (1999) Journal of Inherited Metabolic Disease , vol.21 , pp. 604-612


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.