Wilson's disease in East Germany: in retrospect and perspectives -- an evaluation |
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Authors: | J L?ssner H Bachmann R Siegemund H J Kühn K Günther |
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Affiliation: | Klinik für Neurologie der Karl-Marx-Universit?t Leipzig. |
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Abstract: | Wilson's disease is an autosomal recessive inherited metabolic disorder due to a disturbance of copper metabolism. Although the primary genetic defect is not known a longlife treatment is necessary for establishing a negative copper balance by removing the metal of the abnormal body stores. Experiences in handling with this disease in our country over a period of 20 years are reported. Especially epidemiologic findings, the diagnostic procedures and the strategies in therapeutic regimes are discussed. Future advances in genomic diagnostics are mentioned. |
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