The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Autor: Parenti, Giancarlo^1,2,3,4 (AUTHOR) parenti@unina.it, Fecarotta, Simona^1,3,4 (AUTHOR), Alagia, Marianna^1,3,4 (AUTHOR), Attaianese, Federica^1,3 (AUTHOR), Verde, Alessandra^1,3,4 (AUTHOR), Tarallo, Antonietta^1,2,3 (AUTHOR), Gragnaniello, Vincenza^1,3 (AUTHOR), Ziagaki, Athanasia^1,5 (AUTHOR), Guimaraes, Maria Jose'^1,6 (AUTHOR), Aguiar, Patricio^1,7 (AUTHOR), Hahn, Andreas^1,8 (AUTHOR), Azevedo, Olga^1,9,10,11 (AUTHOR), Donati, Maria Alice^1,12 (AUTHOR), Kiec-Wilk, Beata^1,13,14 (AUTHOR), Scarpa, Maurizio^1,15 (AUTHOR), van der Beek, Nadine A. M. E.^1,16 (AUTHOR), Del Toro Riera, Mireja^1,17 (AUTHOR), Germain, Dominique P.^1,18 (AUTHOR), Huidekoper, Hidde^1,19 (AUTHOR), van den Hout, Johanna M. P.^1,19 (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 11/1/2024, Vol. 19 Issue 1, p1-23. 23p.

Comparative analysis of Ig and TCR gene rearrangements at diagnosis and at relapse of childhood precursor-B-ALL provides improved strategies for selection of stable PCR targets for monitoring of minimal residual disease

Autor: MJ Willemse, Elisabeth R. van Wering, Mirjam van der Burg, Jacques J.M. van Dongen, Tomasz Szczepański, Bas Brinkhof

Publikováno v: Blood, 99, 2315-2323. American Society of Hematology

Immunoglobulin (Ig) and T-cell receptor (TCR) gene rearrangements are excellent patient-specific polymerase chain reaction (PCR) targets for detection of minimal residual disease (MRD) in acute lymphoblastic leukemia (ALL), but they might be unstable

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::428e96e18ec62b0237bbc0a641f9b9c2
https://pure.eur.nl/en/publications/13cb3482-963e-4bdf-bd1d-de129acb1993

Molecular discrimination between relapsed and secondary acute lymphoblastic leukemia: Proposal for an easy strategy

Autor: Anton W. Langerak, Willem Kamps, Tomasz Szczepański, MJ Willemse, Jacques J.M. van Dongen, Elisabeth R. van Wering

Publikováno v: Medical and Pediatric Oncology, 36, 352-358. Wiley-Liss Inc.
Medical and Pediatric Oncology, 36(3), 352-358

Background. Discrimination between late relapse of acute lymphoblastic leukemia (ALL) and secondary ALL might be clinically important, because the former might still respond favorably to chemotherapy and/or bone marrow transplantation, whereas second

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d62bdbda768c324d03333c334cc92efa
https://doi.org/10.1002/mpo.1085

Clearance of maternal leukaemic cells in a neonate

Autor: Anthonie Willem Langerak, MJ Willemse, J M Wijkhuijs, V H J van der Velden, J. J. M. Van Dongen, Tomasz Szczepański, M. F. Mulder

Publikováno v: British Journal of Haematology. 114:104-106

A 36-week pregnant woman was diagnosed with acute lymphoblastic leukaemia. Delivery was initiated prematurely, and a healthy child was born. Cord blood and peripheral blood samples from the neonate (obtained at 6 weeks, 3 months and 6 months) were an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d098e110dde4f88a59f6e4b72659ee2b
https://doi.org/10.1046/j.1365-2141.2001.02914.x

Precursor-B-ALL with Dh-Jh gene rearrangements have an immature immunogenotype with a high frequency of oligoclonality and hyperdiploidy of chromosome 14

Autor: MJ Willemse, J.F. van Weerden, Jjm van Dongen, E. R. Van Wering, WA Kamps, Tomasz Szczepański

Publikováno v: Leukemia, 15, 1415-1423. Nature Publishing Group

The IGH gene configuration was investigated in 97 childhood precursor-B-ALL patients at initial diagnosis. Rearrangements were found by Southern blotting in all but three patients (97%) and in 30 cases (31%) we observed oligoclonal IGH gene rearrange

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f0442318f4a9758e0743da7b6b3d8a
https://pure.eur.nl/en/publications/c777f49c-b7fe-4078-be94-0bbb243d8ab6