Work

PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype

Year: 2013
Type: article
Abstract: Hyperzincaemia and hypercalprotectinaemia (Hz/Hc), a rare condition within the spectrum of autoinflammatory diseases, is associated with hepatosplenomegaly, arthritis, anemia, cutaneous inflammation, and failure to thrive. So far, no genetic cause has been identified. While the clinical appearance is heterogeneous, all affected individuals present with extremely elevated MRP8/MRP14 (calprotectin) serum concentrations (0.9-12.0 g/l (normal range < 0.001 g/l)).
Language: English
Open Access status: gold
Estimated APC paid: $3,090
OpenAlex ID: W2056202855
FWCI: 0.149
Cites:
Cited by: 1
Related to: 10