Browsing by Author "Ariceta, Gema"

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  • Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function
    Durán, Mónica; Burballa Tàrrega, Carla, 1988-; Cantero Recasens, Gerard, 1984-; Butnaru, Cristian M.; Malhotra, Vivek; Ariceta, Gema; Sarró, Eduard; Meseguer, Anna (Oxford University Press, 2021)
    Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic ...
  • Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa
    Ariceta, Gema; Buj, María José; Furlano, Mónica; Martínez, Víctor; Matamala, Anna; Morales, Montserrat; Robles, Nicolás Roberto; Sans Atxer, Laia; Villacampa, Felipe; Torra, Roser (Elsevier, 2020)
    Tuberous sclerosis complex (TSC) is a rare, hereditary, multisystemic disease with a broad phenotypic spectrum. Its management requires the collaboration of multiple specialists. Just as in the paediatric age, the paediatric ...