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8 p, 1.3 MB |
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
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Rovira-Remisa, M. Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Moreira, Mónica (Universitat Autònoma de Barcelona) ;
Ventura-Wichner, Paula S (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Gonzalez-Alvarez, Pablo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Mestres, Núria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Graterol Torres, Fredzzia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Joaquín, Clara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Roche, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ibáñez-Micó, Salvador (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
López-Laso, Eduardo (Instituto Maimónides de Investigación Biomédica de Córdoba) ;
Méndez-Hernández, María Jesús (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Murillo-Vallés, Marta (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Monlleó-Neila, Laura (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Maqueda-Castellote, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Giralt López, Maria (Universitat Autònoma de Barcelona) ;
Cortès-Saladelafont, Elisenda (Universitat Autònoma de Barcelona)
The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with challenging patient care needs. [...]
2023 -  10.1016/j.ymgmr.2023.100962
Molecular Genetics and Metabolism Reports, Vol. 35 (march 2023) , p. 100962
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12 p, 2.1 MB |
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome : A Cohort Study
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Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ;
Martínez, V. (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Pybus, Marc (Institut d'Investigació Biomèdica Sant Pau) ;
Arce, Yolanda (Institut d'Investigació Biomèdica Sant Pau) ;
Crespí, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Venegas, María del Prado (Institut d'Investigació Biomèdica Sant Pau) ;
Bullich Vilanova, Gemma (Centre de Regulació Genòmica) ;
Domingo, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Ayasreh Fierro, Nadia (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Benito, S. (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Lorente, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Ruíz, Patricia (Institut d'Investigació Biomèdica Sant Pau) ;
Gonzalez, V.L. (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Arlandis, R. (Nephrology Department. Hospital General de la Palma) ;
Cabello, E. (Nephrology Department. Hospital General Universitario de Castellón) ;
Torres, F. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Guirado, Luis (Institut d'Investigació Biomèdica Sant Pau) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Rationale & Objective: Alport syndrome is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in the gene COL4A3, COL4A4, or COL4A5. [...]
2021 - 10.1053/j.ajkd.2021.02.326
American Journal of Kidney Diseases, Vol. 78 Núm. 4 (october 2021) , p. 560-570.e1
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9 p, 215.1 KB |
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases : Results From the First Multi-Center European Survey
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Stepien, Karolina M. (Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust) ;
Kieć-Wilk, Beata (Department of Metabolic Diseases, Medical College, Jagiellonian University) ;
Lampe, Christina (Department of Child Neurology, Center for Rare Diseases Giessen (ZSEGI), Justus-Liebig University) ;
Tangeraas, Trine (Oslo University Hospital (Oslo, Noruega)) ;
Cefalo, Graziella (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ;
Belmatoug, Nadia (Referral Center for Lysosomal Diseases, AP-HP Nord, Beaujon Hospital, Paris University) ;
Francisco, Rita (Portuguese Association for Congenital Disorders of Glycosylation and other Rare Metabolic Diseases) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ;
Wagner, Leona (German-Speaking Self-Help Group for Alkaptonuria (DSAKU) e.V) ;
Lauridsen, Anne-Grethe (Gaucher Association Denmark) ;
Sestini, Sylvia (Italian Association of Patients With Alkaptonuria (aimAKU)) ;
Weinhold, Nathalie (Metabolic Unit, Interdisciplinary Centre for Metabolism: Endocrinology, Diabetes and Metabolism (UP) and Children's Hospital, Charité University Hospital Berlin) ;
Hahn, Andreas (Department of Child Neurology, Justus-Liebig University) ;
Montanari, Chiara (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ;
Rovelli, Valentina (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ;
Bellettato, Cinzia M. (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ;
Paneghetti, Laura (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ;
van Lingen, Corine (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ;
Scarpa, Maurizio (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ;
Universitat Autònoma de Barcelona
Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patients now surviving beyond the age of 20. [...]
2021 - 10.3389/fmed.2021.652358
Frontiers in Medicine, Vol. 8 (february 2021)
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6 p, 1.0 MB |
MYH9-related disease : it does exist, may be more frequent than you think and requires specific therapy
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Fernandez-Prado, Raul (Red de Investigación Renal) ;
Carriazo-Julio, Sol Maria (Red de Investigación Renal) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Ortiz, Alberto (Red de Investigación Renal) ;
Pérez-Gómez, Maria Vanessa (Red de Investigación Renal) ;
Universitat Autònoma de Barcelona
In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease. The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. [...]
2019 - 10.1093/ckj/sfz103
Clinical Kidney Journal, Vol. 12 (august 2019) , p. 488-493
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