Publications

functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.	functional consequences of 12 mutations-10 missense, 1 splicing defect, and 1 frameshift mutation-were characterized in the uroporphyrinogen decarboxylase (uro-d) gene found in utah pedigrees with familial porphyria cutanea tarda (f-pct). all but one mutation altered a restriction site in the uro-d gene, permitting identification of affected relatives using a combination of polymerase chain reaction and restriction enzyme digestion. in a bacterial expression system, 3 of the missense mutants wer ...	2001	11719352
anakinra for systemic juvenile arthritis: the rocky mountain experience.	poor outcomes in systemic juvenile arthritis have been associated with persistent thrombocytosis, increased sedimentation rates, anemia, polyarthritis, and prolonged steroid use. off-label treatment with recombinant interleukin-1 receptor antagonist therapy (anakinra) has become more common since reports of its association with reduced systemic symptoms and arthritis scores, improved laboratory parameters of inflammation, and decreased corticosteroid requirements.	2009	19363453