Wilson's disease.
During the last 90 years, Wilson's hepatolenticular degeneration has evolved from a disease presenting insurmountable challenges to the clinician's diagnostic acumen to a metabolic disorder which is diagnosable woth certainty, treatable successfully, and even preventable.  It may be long before the genetic defect becomes amenable to correction and a cure of the disease becomes possible.
Sternlieb
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Department of Medicine, Albert Einstein College of Medicine, Yeshiva University, Bronx, New York, USA. irmin@ix.netcom.com
D000818:Animals; D015415:Biomarkers / Q000032:analysis; D001707:Biopsy, Needle; D003131:Combined Modality Therapy; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011379:Prognosis; D051381:Rats; D018570:Risk Assessment; D015996:Survival Rate
D015415:Biomarkers