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Digitale Medien

Variability in clinical expression of Menkes syndrome (1988)

Gerdes, A.-M. ; Tønnesen, T. ; Pergament, E. ; [weitere]

Springer

European journal of pediatrics 148 (1988), S. 132-135

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Details

ISSN: 1432-1076

Schlagwort(e): Menkes syndrome ; Genetic heterogeneity ; Copper therapy

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups:one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00445920

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