Simple Approaches to Screening and Definitive Diagnosis
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Once the physician recognizes the possibility of Wilson’s disease in a patient, how can that possibility be checked out? The patient needs to be screened for Wilson’s disease, and the first part of this chapter deals with screening tests and procedures. Note that the usefulness of one procedure, the Kayser-Fleischer ring examination, varies according to the patient’s presentation—it is excellent in the neurological/psychiatric presentation, but only moderately useful in the other presentations. Thus, I will particularize a little the priorities for recommended screening tests according to mode of presentation.
KeywordsLiver Biopsy Serum Copper Heterozygous Carrier Copper Accumulation Urine Copper
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