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Page 1
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel. Wlodarski MW, et al. Among authors: kager l. Lancet Haematol. 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. Lancet Haematol. 2024. PMID: 38697731
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Hägele P, et al. Among authors: kager l. Lancet Haematol. 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. Lancet Haematol. 2024. PMID: 38302222
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Novak W, Berner J, Svaton M, Jimenez-Heredia R, Segarra-Roca A, Frohne A, Guiliani S, Rouhani D, Eder SK, Rottal A, Trapin D, Scheuchenstuhl A, Pickl WF, Simonitsch-Klupp I, Kager L, Boztug K. Novak W, et al. Among authors: kager l. Br J Haematol. 2023 Nov;203(4):678-683. doi: 10.1111/bjh.19061. Epub 2023 Aug 30. Br J Haematol. 2023. PMID: 37646304
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: kager l. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
Pharmacogenomics in Pediatric Oncology Research and Treatment.
Kager L, Evans WE. Kager L, et al. J Pediatr Pharmacol Ther. 2024 Oct;29(5):554-557. doi: 10.5863/1551-6776-29.5.554. Epub 2024 Oct 14. J Pediatr Pharmacol Ther. 2024. PMID: 39411408 Free PMC article. No abstract available.
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L, Jimenez-Heredia R, Zeitlhofer P, Novak W, Eder SK, Segarra-Roca A, Frohne A, Nebral K, Haimel M, Geyeregger R, Roetzer-Londgin K, Haas OA, Boztug K. Kager L, et al. Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan. Hemasphere. 2024. PMID: 38434532 Free PMC article. No abstract available.
IT-Related Barriers and Facilitators to the Implementation of a New European eHealth Solution, the Digital Survivorship Passport (SurPass Version 2.0): Semistructured Digital Survey.
de Beijer IAE, van den Oever SR, Charalambous E, Cangioli G, Balaguer J, Bardi E, Alfes M, Cañete Nieto A, Correcher M, Pinto da Costa T, Degelsegger-Márquez A, Düster V, Filbert AL, Grabow D, Gredinger G, Gsell H, Haupt R, van Helvoirt M, Ladenstein R, Langer T, Laschkolnig A, Muraca M, Pluijm SMF, Rascon J, Schreier G, Tomášikova Z, Trauner F, Trinkūnas J, Trunner K, Uyttebroeck A, Kremer LCM, van der Pal HJH, Chronaki C; PanCareSurPass Consortium. de Beijer IAE, et al. J Med Internet Res. 2024 May 2;26:e49910. doi: 10.2196/49910. J Med Internet Res. 2024. PMID: 38696248 Free PMC article.
Long-Term Outcomes of Early Surgery vs Endoscopy First in Chronic Pancreatitis: Follow-Up Analysis of the ESCAPE Randomized Clinical Trial.
van Veldhuisen CL, Kempeneers MA, de Rijk FEM, Bouwense SA, Bruno MJ, Fockens P, Poley JW, Ali UA, Bollen TL, Busch OR, van Duijvendijk P, van Dullemen HM, van Eijck CH, Van Goor H, Hadithi M, Haveman JW, Keulemans Y, Nieuwenhuijs VB, Poen AC, Voermans RP, Tan AC, Thijs W, Verdonk RC, Witteman BJ, van Hooft JE, van Santvoort HC, Dijkgraaf MG, Besselink MG, Boermeester MA, Issa Y; Dutch Pancreatitis Study Group. van Veldhuisen CL, et al. JAMA Surg. 2024 Nov 20:e245182. doi: 10.1001/jamasurg.2024.5182. Online ahead of print. JAMA Surg. 2024. PMID: 39565607 Free article.
240 results