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Blood|March 18, 2018
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History StudyRachael F Grace, Paola Bianchi, Eduard J van Beers, et al.Blood Advances|February 12, 2026
Long-term MAPK inhibition of childhood refractory-Langerhans cell histiocytosis: an observational study on 288 patientsJean Donadieu, Dmitry Evseev, Francesco Pegoraro, et al.Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.Pageof 6