Kathrin Maurer

TL;DR: Findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type Iinterferon in the genesis of autoimmunity.

TL;DR: In ALG8-CDG, isoelectric focusing of transferrin in serum or plasma shows an abnormal sialotransferrin pattern, and the diagnosis is confirmed by mutation analysis inALG8; all patients reported so far had point mutations or small deletions.

TL;DR: The fluid-debris level is confirmed as a pathognomonic sonographic sign of ovarian torsion with or without associated teratoma.

TL;DR: A new C>T point mutation in exon 13 in the FERMT3 gene in an infant diagnosed with LAD‐III is identified and it is shown that KINDLIN‐3 expression is required for platelet aggregation and leukocyte function, but also osteoclast‐mediated bone resorption.

TL;DR: The correct diagnoses in these 3 patients required the exclusion of malignant osteoclastic tumours, inflammatory disorders of bone, vascular disease, and neurogenic arthropathies using history, physical exam, and appropriate testing and imaging.