Ontology highlight
ABSTRACT:
SUBMITTER: Moller LB
PROVIDER: S-EPMC3179371 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Møller Lisbeth Birk LB Horn Nina N Jeppesen Tina Dysgaard TD Vissing John J Wibrand Flemming F Jennum Poul P Ott Peter P
European journal of human genetics : EJHG 20110525 9
This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were consistently indicative of WND, with the exception of the 24-h urine-Cu test, which is always outside the normal range. Mutations were identified in 100% of the screened ATP7B alleles (70 unrelated), including f ...[more]