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Document type:
Case Reports; Journal Article; Article 
Author(s):
Horvath, R; Freisinger, P; Rubio, R; Merl, T; Bax, R; Mayr, JA; Shawan; Müller-Höcker, J; Pongratz, D; Moller, LB; Horn, N; Jaksch, M 
Title:
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. 
Abstract:
Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenting with congenital cataract, severe muscular hypotonia, developmental delay, sensorineural hearing loss and cytochrome-c oxidase deficiency with repeatedly low copper and ceruloplasmin levels. These findings were suggestive of a copper metabolism disorder. In support of this, the patient's...    »
 
Journal title abbreviation:
J Inherit Metab Dis 
Year:
2005 
Journal volume:
28 
Journal issue:
Pages contribution:
479-92 
Language:
eng 
Print-ISSN:
0141-8955 
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin