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2023
Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine and Groothoff, Jaap (2023). Genetic assessment in primary hyperoxaluria: why it matters. Pediatr. Nephrol., 38 (3). S. 625 - 635. NEW YORK: SPRINGER. ISSN 1432-198X
2019
Garrelfs, Sander F., Rumsby, Gill, Peters-Sengers, Hessel ORCID: 0000-0003-3145-864X, Erger, Florian
ORCID: 0000-0002-2768-1702, Groothoff, Jaap W., Beck, Bodo B., Oosterveld, Michiel J. S., Pelle, Alessandra, Neuhaus, Thomas, Adams, Brigitte, Cochat, Pierre, Salido, Eduardo, Lipkin, Graham W., Hoppe, Bernd and Hulton, Sally-Anne
(2019).
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Kidney Int., 96 (6).
S. 1389 - 1400.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
2014
Mandrile, Giorgia ORCID: 0000-0003-0849-2225, van Woerden, Christiaan S., Berchialla, Paola
ORCID: 0000-0001-5835-5638, Beck, Bodo B., Bourdain, Cecile Acquaviva, Hulton, Sally-Anne and Rumsby, Gill
(2014).
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Kidney Int., 86 (6).
S. 1197 - 1205.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1523-1755