Treatment of primary hyperoxaluria type 1

por Gupta, Asheeta, Somers, Michael J G, Baum, Michelle A
Publicado 2022

Genetic assessment in primary hyperoxaluria: why it matters

por Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine, Groothoff, Jaap
Publicado 2022

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

por Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K., Blakely, Emma L., He, Langping, McFarland, Robert, Taylor, Robert W., Vogt, Julie, Milford, David V.
Publicado 2016

Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry

por Deesker, Lisa J., Garrelfs, Sander F., Mandrile, Giorgia, Oosterveld, Michiel J.S., Cochat, Pierre, Deschênes, Georges, Harambat, Jérôme, Hulton, Sally-Anne, Gupta, Asheeta, Hoppe, Bernd, Beck, Bodo B., Collard, Laure, Topaloglu, Rezan, Prikhodina, Larisa, Salido, Eduardo, Neuhaus, Thomas, Groothoff, Jaap W., Bacchetta, Justine
Publicado 2022

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

por Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S.
Publicado 2021