Results overview: Found 12 records in 0.02 seconds.
Articles, 10 records found
Research literature, 2 records found
Articles 10 records found  
1.
9 p, 439.8 KB Three-dimensional imaging in myotonic dystrophy type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol) ; Almendrote, Miriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Guanyabens, Nicolau (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lopez-Osias, Marta (Institut Germans Trias i Pujol) ; Suárez-Mesa, Adrián (Institut Germans Trias i Pujol) ; Hanick, Shaliza Ann (Institut Germans Trias i Pujol) ; Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Lucia, Alejandro (Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales-Gadea, Gisela (Institut Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
We aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1). We obtained myoblasts from 6 patients with DM1 and 6 controls. [...]
2020 - 10.1212/NXG.0000000000000484
Neurology: Genetics, Vol. 6 (july 2020)  
2.
5 p, 250.5 KB Elosulfase alfa for mucopolysaccharidosis type IVA : Real-world experience in 7 patients from the Spanish Morquio-A early access program / Pintos Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Blasco Alonso, Javier (Hospital Regional Universitario de Málaga) ; Couce, María L. (Hospital Clínico Universitario de Santiago) ; Gutiérrez-Solana, Luís G. (Hospital Infantil Universitario Niño Jesús) ; Guillén-Navarro, Encarna (IMIB - Arrixaca, Murcia) ; O'Callaghan, Mar (Hospital Sant Joan de Déu, Esplugues, Barcelona) ; del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. [...]
2018 - 10.1016/j.ymgmr.2018.03.009
Molecular Genetics and Metabolism Reports, Vol. 15 (april 2018) , p. 116-120  
3.
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  
4.
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 (University College London) ; Kampmann, Christoph (University Medical Center, Mainz, Germany) ; Pintos Morell, Guillem (Institut 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  
5.
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 (Rare Metabolic Diseases Unit, Fondazione MBBM, San Gerardo Hospital, Monza, Italy) ; 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)  
6.
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 (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. Departament de Pediatria) ; 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  
7.
14 p, 413.1 KB Urea cycle disorders in Spain : an observational, cross-sectional and multicentric study of 104 cases / Martín-Hernández, Elena (PHospital Universitario 12 de Octubre. Departamento de Pediatría) ; Aldámiz-Echevarría, Luis (H.U. de Cruces) ; Castejón-Ponce, Esperanza (H. Sant Joan de Déu) ; Pedrón-Giner, Consuelo (H.U. Infantil del Niño Jesús) ; Couce, María 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. Departamento de Pediatría) ; Quijada-Fraile, Pilar (Hospital Universitario 12 de Octubre. Departamento de Pediatría) ; Vitoria-Miñana, Isidro (H. Infantil La Fe) ; Dalmau, Jaime (H. Infantil La Fe) ; Lama-More, Rosa A (Hospital Universitario La Paz) ; Bueno-Delgado, María Amor (H.U. Virgen del Rocío) ; del Toro-Riera, Mirella (Hospital Universitari de la Vall d'Hebrón) ; 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) ; Balmaseda-Serrano, Elena (C.H.U. de Albacete) ; Meavilla, Silvia (Hospital Sant Joan de Déu) ; Sanjurjo-Crespo, Pablo (H.U. de Cruces, Bilbao) ; Pérez-Cerdá, Celia (Universidad Autónoma de Madrid. 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)  
8.
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  
9.
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 School of Medicine. Division of Genetics and Molecular Medicine) ; Chong, W.K. (Great Ormond Street Hospital for Children. Department of Radiology (Londres)) ; Jacques, Thomas S. (Great Ormond Street Hospital for Children. Department of Histopathology (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)  
10.
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 Medicina Interna) ; Pintos Morell, Guillem (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia, Ginecologia i de Medicina Preventiva)
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)  

Research literature 2 records found  
1.
190 p, 1.1 MB Mitochondrial disorders in childhood : from general characteristics to new aspects / García Cazorla, Àngels ; Pintos Morell, Guillem, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia, Ginecologia i de Medicina Preventiva)
Las enfermedades mitocondriales pueden ser englobadas dentro de las enfermedades raras de la edad pediátrica. Esta tesis recoge aspectos clínicos, bioquímicos y genéticos de 241 pacientes con enfermedades mitocondriales diagnosticados en el hospital «Necker-Enfants Malades, Paris», en el período comprendido entre los años 1977 al 2002. [...]
Mitochondrial disorders are rare causes of disease in childhood. This thesis reports clinical, biochemical and genetic aspects of 241 paediatric patients with mitochondrial disorders diagnosed in the «Hôpital Necker-Enfants Malades, Paris» from 1977 to 2002. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2007  
2.
111 p, 1.9 MB El Sistema TNF-[alfa] i els seus receptors : implicació en la infecció perinatal i en el desencadenament del part / Sàrries i Gené, Carme ; Pintos Morell, Guillem, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina)
Aquest treball aprofundeix en el coneixement de les funcions que el sistema TNF-TNFR desenvolupa en la unitat materno-fetal en el part normal i en el part amb risc o signes d'infecció. D'una banda s'analitzen els perfils d'expressió dels receptors del TNF-a p55 i p75 presents en els diferents compartiments de la unitat materno-fetal i de l'altre es determina la concentració plasmàtica del TNF-a i també dels dos receptors en nounats amb signes d'infecció, analitzant si la determinació d'aquestes citocines pot ser utilitzada com a marcador de la sèpsia neonatal precoç i factor pronòstic de l'evolució clínica. [...]
The aim of this study was to analyze the role of the TNF-TNFR system in the materno-fetal unit during both, the normal labor and the labor with risk or signs of infection. The first objective was to analyze TNFR-p55 and p75 expression profiles in the different materno-fetal compartments. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2004
2 documents

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1 Pintos, Guillem
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