See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/7838178 Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism Article in Journal of Inherited Metabolic Disease · February 2005 DOI: 10.1007/s10545-005-0479-x · Source: PubMed CITATIONS 16 READS 198 12 authors, including: Some of the authors of this publication are also working on these related projects: Shoulder joint View project mitochondrial genetics View project Rita Horvath Newcastle University 360 PUBLICATIONS 6,871 CITATIONS SEE PROFILE Peter Freisinger Klinikum Reutlingen 176 PUBLICATIONS 3,288 CITATIONS SEE PROFILE Thomas Merl Kantonsspital Baselland 24 PUBLICATIONS 237 CITATIONS SEE PROFILE Ralph Bax European Medicines Agency 14 PUBLICATIONS 223 CITATIONS SEE PROFILE All content following this page was uploaded by Peter Freisinger on 19 May 2014. The user has requested enhancement of the downloaded file.