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.
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Gerdes, AM., Tønnesen, T., Pergament, E. et al. Variability in clinical expression of Menkes syndrome. Eur J Pediatr 148, 132–135 (1988). https://doi.org/10.1007/BF00445920
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DOI: https://doi.org/10.1007/BF00445920