Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleAP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.AuthorsMartinelli, Diego; Dionisi‐Vici, CarloPublicationAnnals of the New York Academy of Sciences, 2014, Vol 1314, Issue 1, p55ISSN0077-8923Publication typeArticleDOI10.1111/nyas.12426