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Variability in clinical expression of Menkes syndrome.
Variability in clinical expression of Menkes syndrome.
- Source :
-
European journal of pediatrics [Eur J Pediatr] 1988 Nov; Vol. 148 (2), pp. 132-5. - Publication Year :
- 1988
-
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.
Details
- Language :
- English
- ISSN :
- 0340-6199
- Volume :
- 148
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- European journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 3234433
- Full Text :
- https://doi.org/10.1007/BF00445920