Effects of long-term cysteamine treatment in patients with cystinosis

di Ariceta, Gema, Giordano, Vincenzo, Santos, Fernando
Pubblicato in Pediatr Nephrol (2017)

Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies

di Haque, Syed K., Ariceta, Gema, Batlle, Daniel
Pubblicazione 2012

Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene

di Clemente, María, Vargas, Alejandro, Ariceta, Gema, Martínez, Rosa, Campos, Ariadna, Yeste, Diego
Pubblicato in Endocrinol Diabetes Metab Case Rep (2017)

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report

di Rosales, Alejandra, Mhibik, Maissa, Gissen, Paul, Segarra, Oscar, Redecillas, Susana, Ariceta, Gema
Pubblicato in BMC Nephrol (2018)

Long-term outcome in a case series of Denys–Drash syndrome

di Roca, Neus, Muñoz, Marina, Cruz, Alejandro, Vilalta, Ramon, Lara, Enrique, Ariceta, Gema
Pubblicato in Clin Kidney J (2019)

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

di Madariaga, Leire, García-Castaño, Alejandro, Ariceta, Gema, Martínez-Salazar, Rosa, Aguayo, Aníbal, Castaño, Luis
Pubblicato in Clin Kidney J (2018)

Linear Growth in Pediatric Kidney Transplant Population

di Lopez-Gonzalez, Mercedes, Munoz, Marina, Perez-Beltran, Victor, Cruz, Alejandro, Gander, Romy, Ariceta, Gema
Pubblicato in Front Pediatr (2020)

Hepatic Lactate Dehydrogenase A: An RNA Interference Target for the Treatment of All Known Types of Primary Hyperoxaluria

di Ariceta, Gema, Barrios, Kelly, Brown, Bob D., Hoppe, Bernd, Rosskamp, Ralf, Langman, Craig B.
Pubblicato in Kidney Int Rep (2021)

An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry

di Woodward, Len, Johnson, Sally, Walle, Johan Vande, Beck, Joran, Gasteyger, Christoph, Licht, Christoph, Ariceta, Gema
Pubblicato in Orphanet J Rare Dis (2016)

Home Albumin Infusion Therapy, Another Alternative Treatment in Patients With Congenital Nephrotic Syndrome of the Finnish Type

di Serramontmany, Eugènia, Muñoz, Marina, Fernández-Polo, Aurora, Morillo, María, Gómez-Ganda, Laura, Cañete-Ramírez, Carme, Ariceta, Gema
Pubblicato in Front Pediatr (2021)

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function

di Durán, Mónica, Burballa, Carla, Cantero-Recasens, Gerard, Butnaru, Cristian M, Malhotra, Vivek, Ariceta, Gema, Sarró, Eduard, Meseguer, Anna
Pubblicato in Hum Mol Genet (2021)

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

di García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix
Pubblicato in Mol Genet Genomic Med (2020)

Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital

di Martín-Begué, Nieves, Alarcón, Silvia, Wolley-Dod, Charlotte, Lara, Luis Enrique, Madrid, Álvaro, Cano, Paola, del Toro, Mireia, Ariceta, Gema
Pubblicato in JIMD Rep (2016)

Long-Term Efficacy and Safety of the Long-Acting Complement C5 Inhibitor Ravulizumab for the Treatment of Atypical Hemolytic Uremic Syndrome in Adults

di Barbour, Thomas, Scully, Marie, Ariceta, Gema, Cataland, Spero, Garlo, Katherine, Heyne, Nils, Luque, Yosu, Menne, Jan, Miyakawa, Yoshitaka, Yoon, Sung-Soo, Kavanagh, David
Pubblicato in Kidney Int Rep (2021)

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

di Bullich, Gemma, Trujillano, Daniel, Santín, Sheila, Ossowski, Stephan, Mendizábal, Santiago, Fraga, Gloria, Madrid, Álvaro, Ariceta, Gema, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Pubblicato in Eur J Hum Genet (2015)

FGF23 and its role in X-linked hypophosphatemia-related morbidity

di Beck-Nielsen, Signe Sparre, Mughal, Zulf, Haffner, Dieter, Nilsson, Ola, Levtchenko, Elena, Ariceta, Gema, de Lucas Collantes, Carmen, Schnabel, Dirk, Jandhyala, Ravi, Mäkitie, Outi
Pubblicato in Orphanet J Rare Dis (2019)

Challenges in primary focal segmental glomerulosclerosis diagnosis: from the diagnostic algorithm to novel biomarkers

di Jacobs-Cachá, Conxita, Vergara, Ander, García-Carro, Clara, Agraz, Irene, Toapanta-Gaibor, Nestor, Ariceta, Gema, Moreso, Francesc, Serón, Daniel, López-Hellín, Joan, Soler, Maria José
Pubblicato in Clin Kidney J (2020)

The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

di Padidela, Raja, Nilsson, Ola, Makitie, Outi, Beck-Nielsen, Signe, Ariceta, Gema, Schnabel, Dirk, Brandi, Maria Luisa, Boot, Annemieke, Levtchenko, Elena, Smyth, Michael, Jandhyala, Ravi, Mughal, Zulf
Pubblicato in Orphanet J Rare Dis (2020)

The global aHUS registry: methodology and initial patient characteristics

di Licht, Christoph, Ardissino, Gianluigi, Ariceta, Gema, Cohen, David, Cole, J. Alexander, Gasteyger, Christoph, Greenbaum, Larry A., Johnson, Sally, Ogawa, Masayo, Schaefer, Franz, Vande Walle, Johan, Frémeaux-Bacchi, Véronique
Pubblicato in BMC Nephrol (2015)

Improvement in Growth After 1 Year of Growth Hormone Therapy in Well-Nourished Infants with Growth Retardation Secondary to Chronic Renal Failure: Results of a Multicenter, Control...

di Santos, Fernando, Moreno, M. Llanos, Neto, Arlete, Ariceta, Gema, Vara, Julia, Alonso, Angel, Bueno, Alberto, Afonso, Alberto Caldas, Correia, António Jorge, Muley, Rafael, Barrios, Vicente, Gómez, Carlos, Argente, Jesús
Pubblicazione 2010