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Variability in clinical expression of Menkes syndrome.

Variability in clinical expression of Menkes syndrome.

Authors :
Gerdes AM
Tønnesen T
Pergament E
Sander C
Baerlocher KE
Wartha R
Güttler F
Horn N
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