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Articles 18 registres trobats  anterior11 - 18  anar al registre: La cerca s'ha fet en 0.00 segons. 
11.
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 de Cruces (Barakaldo, País Basc)) ; Madrid, Alvaro (Hospital Universitari Vall d'Hebron) ; Chocron, 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 (València)) ; Fijo, Julia (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Espino, Mar (Hospital Universitario Fundación Alcorcón) ; Espitaletta, Zilac (Hospital Universitario San Ignacio, Bogotá) ; García Nieto, Víctor (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Barajas de Frutos, David (Hospital Universitario 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) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Grupo RenalTube ; 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  
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12.
5 p, 246.4 KB Long-term outcomes with agalsidase alfa enzyme replacement therapy : analysis using deconstructed composite events / Beck, Michael (University Medical Center, Mainz, Germany) ; Hughes, Derralynn A (University College London) ; Kampmann, Christoph (University Medical Center, Mainz, Germany) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramaswami, Uma (University College London) ; West, Michael L. (Dalhousie University, Halifax, Canada) ; Giugliani, Roberto (Universidade Federal do Rio Grande do Sul, Brazil) ; Universitat Autònoma de Barcelona
This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. [...]
2017 - 10.1016/j.ymgmr.2017.10.008
Molecular Genetics and Metabolism Reports, Vol. 14 (november 2017) , p. 31-35  
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13.
7 p, 568.2 KB Paediatric Fabry disease : prognostic significance of ocular changes for disease severity / Kalkum, Gisela (Department of Paediatrics, Helios-Dr-Horst-Schmidt-Kliniken HSK, Ludwig-Erhard-Strasse 100, 65199 Wiesbaden, Germany) ; Pitz, Susanne (Department of Ophthalmology, University Medical Centre, Johannes Gutenberg University, Mainz, Germany) ; Karabul, Nesrin (Department of Neuropaediatrics and Inborn Metabolic Disorders (Metabolicum Ruhr), University Children's Hospital, Centre for Rare Diseases, Ruhr University Bochum, Bochum, Germany) ; Beck, Michael (Institute of Human Genetics, University Medical Centre, Johannes Gutenberg University, Mainz, Germany) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Parini, Rossella (Ospedale San Gerardo (Itàlia)) ; Rohrbach, Marianne (Division of Metabolism, University Children's Hospital, Children's Research Centre, Zurich, Switzerland) ; Bizjajeva, Svetlana (Shire, Zug, Switzerland) ; Ramaswami, Uma (Lysosomal Disorders Unit, Royal Free London Hospitals NHS Foundation Trust, London, UK) ; Universitat Autònoma de Barcelona
Ocular signs of Fabry disease can be seen in the first decade of life. We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). [...]
2016 - 10.1186/s12886-016-0374-2
BMC ophthalmology, Vol. 16 (november 2016)  
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14.
7 p, 412.7 KB Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease : A Fabry Outcome Survey analysis / Beck, Michael (University Medical Center, University of Mainz, Department of Paediatrics) ; Hughes, Derralynn A (Royal Free London NHS Foundation Trust, University College of London) ; Kampmann, Christoph (University Medical Center, University of Mainz, Department of Paediatrics) ; Larroque, Sylvain (Shire, Zug) ; Mehta, Atul (Royal Free London NHS Foundation Trust, University College of London) ; Pintos-Morellell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramaswami, Uma (Royal Free London NHS Foundation Trust, University College of London) ; West, Michael (Department of Medicine, Dalhousie University) ; Wijatyk, Anna (Shire) ; Giugliani, Roberto (Medical Genetics Service HCPA/Dep Genet UFRGS and INAGEMP, Porto Alegre) ; Universitat Autònoma de Barcelona
Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared with published findings for untreated patients with Fabry disease. [...]
2015 - 10.1016/j.ymgmr.2015.02.002
Molecular Genetics and Metabolism Reports, Vol. 3 (march 2015) , p. 21-27  
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15.
14 p, 413.1 KB Urea cycle disorders in Spain : an observational, cross-sectional and multicentric study of 104 cases / Martín-Hernández, Elena (Hospital Universitario 12 de Octubre (Madrid)) ; Aldámiz-Echevarría, Luis (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Castejón-Ponce, Esperanza (H. Sant Joan de Déu) ; Pedrón-Giner, Consuelo (H.U. Infantil del Niño Jesús) ; Couce, Maria Luz (C.H.U. de Santiago) ; Serrano-Nieto, Juliana (H. Materno Infantil Carlos Haya) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Bélanger-Quintana, Amaya (H.U. Ramón y Cajal) ; Martínez-Pardo, Mercedes (H.U. Ramón y Cajal) ; García-Silva, María Teresa (Hospital Universitario 12 de Octubre (Madrid)) ; Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre (Madrid)) ; Vitoria-Miñana, Isidro (H. Infantil La Fe) ; Dalmau, Jaime (H. Infantil La Fe) ; Lama-More, Rosa A. (Hospital Universitario La Paz (Madrid)) ; Bueno-Delgado, María Amor (H.U. Virgen del Rocío) ; del Toro-Riera, Mirella (Hospital Universitari Vall d'Hebron) ; García Jiménez, Inmaculada (H.U. Miguel Servet) ; Sierra-Córcoles, Concepción (C.H. de Jaén) ; Ruiz-Pons, Mónica (H.U. Ntra. Sra. de la Candelaria) ; Peña-Quintana, Luis J. (H.U. Materno Infantil de Las Palmas) ; Vives-Piñera, Inmaculada (H.C.U. Virgen de la Arrixaca) ; Moráis, Ana (Hospital Universitario La Paz (Madrid)) ; Balmaseda-Serrano, Elena (Complejo Hospitalario Universitario de Albacete) ; Meavilla, Silvia (Hospital Sant Joan de Déu (Manresa)) ; Sanjurjo-Crespo, Pablo (H.U. de Cruces, Bilbao) ; Pérez-Cerdá, Celia (Universidad Autónoma de Madrid. Centro de Diagnostico de Enfermedades Moleculares-CEDEM) ; Universitat Autònoma de Barcelona
Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. [...]
2014 - 10.1186/s13023-014-0187-4
Orphanet Journal of Rare Diseases, Vol. 9 (november 2014)  
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16.
9 p, 293.0 KB Fabry disease in children and the effects of enzyme replacement treatment / Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Beck, Michael (University Children's Hospital, Mainz, Germany) ; Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a deficiency in the activity of the lysosomal enzyme, α-galactosidase A. In affected patients, the enzyme substrate, globotriaosylceramide (Gb3), accumulates in cells of various tissues and organs. [...]
2009 - 10.1007/s00431-009-0937-9
European Journal of Pediatrics, Vol. 168 (2 2009) , p. 1355-1363  
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17.
16 p, 3.8 MB Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia / Tuschl, Karin (University College London. Institute of Child Health) ; Meyer, Esther (University College London. Institute of Child Health) ; Valdivia, Leonardo E. (University College London. Department of Cell and Developmental Biology) ; Zhao, Ningning (Oregon Health and Science University. Department of Cell, Development and Cancer Biology) ; Dadswell, Chris (University of Sussex. Department of Chemistry, School of Life Sciences) ; Abdul-Sada, Alaa (University of Sussex. Department of Chemistry, School of Life Sciences) ; Hung, Christina Y. (Harvard Medical School. Division of Genetics and Genomics) ; Simpson, Michael A. (King's College London) ; Chong, W. Kling (Great Ormond Street Hospital for Children (Londres)) ; Jacques, Thomas S. (Great Ormond Street Hospital for Children (Londres)) ; Woltjer, Randy L. (Oregon Health and Science University. Department of Pathology) ; Eaton, Simon (University College London. Institute of Child Health) ; Gregory, Allison (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Sanford, Lynn (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Kara, Eleanna (University College London. Institute of Neurology) ; Houlden, Henry (University College London. Institute of Neurology) ; Cuno, Stephan M. (Technical University of Munich. Institute of Human Genetics) ; Prokisch, Holger (Technical University of Munich. Institute of Human Genetics) ; Valletta, Lorella (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Tiranti, Valeria (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Younis, Rasha (University of Birmingham. Department of Medical and Molecular Genetics) ; Maher, Eamonn R. (University of Birmingham. Centre for Rare Diseases and Personalised Medicine) ; Spencer, John (University of Sussex. Department of Chemistry, School of Life Sciences) ; Straatman Iwanowska, Ania (University College London. Laboratory for Molecular Cell Biology and Cell Biology Unit) ; Gissen, Paul (University College London. Institute of Child Health) ; Selim, Laila A. M. (Cairo University Children's Hospital. Department of Paediatric Neurology) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coroleu Lletget, Wifredo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mohammad, Shekeeb S. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Yoganathan, Sangeetha (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Dale, Russell C.. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Thomas, Maya (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Rihel, Jason (University College London. Department of Cell and Developmental Biology) ; Bodamer, Olaf A. (Harvard Medical School. Division of Genetics and Genomics) ; Enns, Caroline A. (Oregon Health & Sciences University. Department of Cell, Development and Cancer Biology) ; Hayflick, Susan J. (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Clayton, Peter T. (University College London. Institute of Child Health) ; Mills, Philippa B. (University College London. Institute of Child Health) ; Kurian, Manju A. (University College London. Institute of Child Health) ; Wilson, Stephen W. (University College London. Department of Cell and Developmental Biology)
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. [...]
2016 - 10.1038/ncomms11601
Nature communications, Vol. 7 Núm. 11601 (May 2016)  
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18.
11 p, 1.5 MB Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey / Barba Romero, Miguel Ángel (Universidad de Castilla-La Mancha. Departamento de Ciencias Médicas) ; Pintos-Morell, Guillem (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública)
Both male/female patients with Fabry disease (FD) may receive enzyme replacement therapy (ERT). Previously published analyses of the Fabry Outcome Survey (FOS; Shire-sponsored) database suggested gender differences in timing of ERT initiation. [...]
2016 - 10.3390/ijms17121965
International journal of molecular sciences, Vol. 17 Núm. 12 (November 2016)  
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