Results overview: Found 5 records in 0.02 seconds.
Articles, 5 records found
Articles 5 records found  
8 p, 744.0 KB Effects of long-term cysteamine treatment in patients with cystinosis / Ariceta, Gema (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública) ; Giordano, Vincenzo (Orphan Europe (Puteaux, France)) ; Santos, Fernando (Hospital Universitario Central de Asturias)
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. [...]
2017 - 10.1007/s00467-017-3856-4
Pediatric Nephrology (Berlin, Germany), Vol. 34 (december 2017) , p. 571-578  
11 p, 788.9 KB Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome / García Castaño, Alejandro (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Pérez de Nanclares, Gustavo (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Madariaga, Leire (Universidad del País Vasco. Departamento de Pediatría) ; Aguirre, Mireia (Hospital Universitario Cruces, Bizkaia) ; Madrid, Álvaro (Hospital Universitari Vall d'Hebron) ; Chocrón, Sara (Hospital Universitari Vall d'Hebron) ; Nadal, Inmaculada (Hospital Virgen del Camino, Pamplona) ; Navarro, Mercedes (Hospital Universitario La Paz, Madrid) ; Lucas, Elena (Hospital de Manises, Valencia) ; Fijo, Julia (Hospital Virgen del Rocio, Sevilla) ; Espino, Mar (Hospital Universitario Fundación Alcorcón) ; Espitaletta, Zilac (Hospital Universitario San Ignacio, Bogotá) ; García Nieto, Víctor (Hospital Universitario Nuestra Señora de Candelaria, Tenerife) ; Barajas de Frutos, David (Hospital Virgen de las Nieves, Granada) ; Loza, Reyner (Hospital Cayetano Heredia, Lima) ; Pintos, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Castaño, Luis (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Grupo RenalTube ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. [...]
2017 - 10.1371/journal.pone.0173581
PloS one, Vol. 12 Núm. 3 (2017) , p. 1-11  
5 p, 2.4 MB Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene / Clemente, María (Hospital Universitari Vall d'Hebron) ; Vargas, Alejandro (Hospital Universitari Vall d'Hebron) ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Martínez, Rosa (Hospital Universitario Cruces) ; Campos, Ariadna (Hospital Universitari Vall d'Hebron) ; Yeste, Diego (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported.
2017 - 10.1530/EDM-16-0133
Endocrinology, Diabetes & Metabolism Case Reports, Vol. 2017 (march 2017)  
12 p, 1.5 MB Efficacy and safety of paricalcitol in children with stages 3 to 5 chronic kidney disease / Webb, Nicholas J. A. (Royal Manchester Children's Hospital, Manchester, UK) ; Lerner, Gary (Keck School of Medicine-Children's Hospital Los Angeles, USA) ; Warady, Bradley A. (Children's Mercy Hospital, Kansas City, USA.) ; Dell, Katherine M. (Cleveland Clinic Children's, USA) ; Greenbaum, Larry A. (Emory School of Medicine and Children's Healthcare of Atlanta, USA.) ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Hoppe, Bernd (University Hospital Bonn, Germany) ; Linde, Peter (AbbVie Inc., North Chicago, USA) ; Lee, Ho-Jin (AbbVie Inc., North Chicago, USA) ; Eldred, Ann (AbbVie Inc., North Chicago, USA) ; Dufek, Matthew B. (AbbVie Inc., North Chicago, USA) ; Universitat Autònoma de Barcelona
Elevated intact parathyroid hormone (iPTH) levels can contribute to morbidity and mortality in children with chronic kidney disease (CKD). We evaluated the pharmacokinetics, efficacy, and safety of oral paricalcitol in reducing iPTH levels in children with stages 3-5 CKD. [...]
2017 - 10.1007/s00467-017-3579-6
Pediatric Nephrology (Berlin, Germany), Vol. 32 (march 2017) , p. 1221-1232  
8 p, 444.5 KB Targeted next-generation sequencing in steroid-resistant nephrotic syndrome : mutations in multiple glomerular genes may influence disease severity / Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Trujillano, Daniel (CIBER in Epidemiology and Public Health (CIBERESP)) ; Santín, Sheila (Institut d'Investigació Biomèdica Sant Pau) ; Ossowski, Stephan (Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG)) ; Mendizábal, Santiago (Pediatric Nephrology Department, Hospital Universitario La Fe) ; Fraga Rodríguez, Gloria María (Institut d'Investigació Biomèdica Sant Pau) ; Madrid, Álvaro (Pediatric Nephrology Department, Hospital Vall d'Hebron) ; Ariceta, Gema (Pediatric Nephrology Department, Hospital Vall d'Hebron) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Estivill, Xavier (CIBER in Epidemiology and Public Health (CIBERESP)) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Instituto de Salud Carlos III
Genetic diagnosis of steroid-resistant nephrotic syndrome (SRNS) using Sanger sequencing is complicated by the high genetic heterogeneity and phenotypic variability of this disease. We aimed to improve the genetic diagnosis of SRNS by simultaneously sequencing 26 glomerular genes using massive parallel sequencing and to study whether mutations in multiple genes increase disease severity. [...]
2014 - 10.1038/ejhg.2014.252
European Journal of Human Genetics, Vol. 23 (november 2014) , p. 1192-1199  

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2 Ariceta, G.
8 Ariceta, Gema
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