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Title:

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

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
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:
4
Pages contribution:
479-92
Language:
eng
Fulltext / DOI:
doi:10.1007/s10545-005-0479-x
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/15902551
Print-ISSN:
0141-8955
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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